ClinVar Miner

Submissions for variant NM_000553.6(WRN):c.3974T>A (p.Val1325Asp)

dbSNP: rs2130481555
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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 RCV002020164 SCV002289860 uncertain significance Werner syndrome 2022-11-15 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with WRN-related conditions. This sequence change replaces valine with aspartic acid at codon 1325 of the WRN protein (p.Val1325Asp). The valine residue is weakly conserved and there is a large physicochemical difference between valine and aspartic acid. This variant is not present in population databases (gnomAD no frequency). ClinVar contains an entry for this variant (Variation ID: 1502297). 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: "Not Available"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Not Available"). 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.

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