ClinVar Miner

Submissions for variant NM_000553.6(WRN):c.3535G>A (p.Ala1179Thr)

dbSNP: rs868438861
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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 RCV002006260 SCV002275546 uncertain significance Werner syndrome 2021-08-29 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 alanine with threonine at codon 1179 of the WRN protein (p.Ala1179Thr). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and threonine. This variant is not present in population databases (ExAC no frequency). 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: "Probably 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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