ClinVar Miner

Submissions for variant NM_000553.6(WRN):c.1847C>T (p.Ala616Val)

dbSNP: rs1813758509
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001036184 SCV001199535 uncertain significance Werner syndrome 2019-03-25 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with WRN-related conditions. 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. 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: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant is not present in population databases (ExAC no frequency). This sequence change replaces alanine with valine at codon 616 of the WRN protein (p.Ala616Val). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and valine.

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