ClinVar Miner

Submissions for variant NM_000553.6(WRN):c.1414G>C (p.Glu472Gln)

dbSNP: rs2130140682
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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 RCV002026111 SCV002304566 uncertain significance Werner syndrome 2022-09-01 criteria provided, single submitter clinical testing 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. ClinVar contains an entry for this variant (Variation ID: 1513315). This sequence change replaces glutamic acid, which is acidic and polar, with glutamine, which is neutral and polar, at codon 472 of the WRN protein (p.Glu472Gln). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with WRN-related conditions.

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