Variants
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rs766175657

  • Uncertain significance

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Description

The V276M variant in the SOX10 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The V276M variant is observed in 2/11,574 (0.017%) alleles from individuals of Latino background in the ExAC dataset (Lek et al., 2016). The V276M variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position where amino acids with similar properties to Valine are tolerated across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret V276M as a variant of uncertain significance.

This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 276 of the SOX10 protein (p.Val276Met). This variant is present in population databases (rs766175657, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with SOX10-related conditions. ClinVar contains an entry for this variant (Variation ID: 450359). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The methionine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

Reference Allele

C


Alternative Allele

T

Chromosome

22


Location

37974070


Variant Type

SNP

Genes

Phenotypes

ClinVar

Name

NM_006941.4(SOX10):c.826G>A (p.Val276Met)


Allele

T


Clinical Significance

Uncertain significance

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