Variants
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rs1211079280

  • Likely pathogenic

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Description

This sequence change replaces valine with alanine at codon 1167 of the PNPLA6 protein (p.Val1167Ala). The valine residue is highly conserved and there is a small physicochemical difference between valine and alanine. This variant is not present in population databases (ExAC no frequency). This missense change has been observed in individual(s) with Oliver–McFarlane/Laurence–Moon syndrome (PMID: 25480986). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. This variant is also known as Val1215Ala. 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"). Experimental studies have shown that this missense change affects PNPLA6 function (PMID: 25480986). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

Reference Allele

T


Alternative Allele

C

Chromosome

19


Location

7559066


Variant Type

SNP

Genes

ClinVar

Name

NM_001166114.2(PNPLA6):c.3614T>C (p.Val1205Ala)


Allele

C


Clinical Significance

Likely pathogenic

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