Variants
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rs369159451

  • Uncertain significance

Your Genotype

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Description

This sequence change replaces arginine with tryptophan at codon 1252 of the PNPLA6 protein (p.Arg1252Trp). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is present in population databases (rs369159451, ExAC 0.01%). This variant has not been reported in the literature in individuals affected with PNPLA6-related conditions. ClinVar contains an entry for this variant (Variation ID: 469620). 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: "Deleterious"; 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

C


Alternative Allele

A

T

Chromosome

19


Location

7561065


Variant Type

SNP

Genes

ClinVar

Name

NM_001166114.2(PNPLA6):c.3868C>T (p.Arg1290Trp)


Allele

T


Clinical Significance

Uncertain significance

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