ClinVar Miner

Submissions for variant NM_000553.6(WRN):c.4051G>A (p.Ala1351Thr)

dbSNP: rs587778752
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003764847 SCV004649553 uncertain significance Werner syndrome 2023-07-08 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with WRN-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 1351 of the WRN protein (p.Ala1351Thr). ClinVar contains an entry for this variant (Variation ID: 135441). 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 output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The threonine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function.
ITMI RCV000122298 SCV000086525 not provided not specified 2013-09-19 no assertion provided reference population

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