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rs727503530

  • Uncertain significance

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Description

The Tyr2321His variant in TRIOBP has not been previously reported in individuals with hearing loss or in large population studies. Computational analyses (amino acid biochemical properties, conservation, AlignGVGD, PolyPhen2, SIFT) do not p rovide strong evidence for or against an impact to the protein. In summary, add itional data is needed to assess the clinical significance of this variant.

This sequence change replaces tyrosine, which is neutral and polar, with histidine, which is basic and polar, at codon 2321 of the TRIOBP protein (p.Tyr2321His). This variant is present in population databases (rs727503530, gnomAD no frequency). This variant has not been reported in the literature in individuals affected with TRIOBP-related conditions. ClinVar contains an entry for this variant (Variation ID: 165616). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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

T


Alternative Allele

C

Chromosome

22


Location

37772625


Variant Type

SNP

Genes

ClinVar

Name

NM_001039141.3(TRIOBP):c.6961T>C (p.Tyr2321His)


Allele

C


Clinical Significance

Uncertain significance

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