ClinVar Miner

Submissions for variant NM_000553.6(WRN):c.145T>C (p.Phe49Leu)

dbSNP: rs587778749
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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 RCV002012774 SCV002286796 uncertain significance Werner syndrome 2021-05-27 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine with leucine at codon 49 of the WRN protein (p.Phe49Leu). The phenylalanine residue is moderately conserved and there is a small physicochemical difference between phenylalanine and leucine. 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: "Not Available"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Not Available"). This variant has not been reported in the literature in individuals with WRN-related conditions. This variant is not present in population databases (ExAC no frequency).

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