ClinVar Miner

Submissions for variant NM_000553.6(WRN):c.1426C>T (p.Leu476Phe)

gnomAD frequency: 0.00001  dbSNP: rs1060500073
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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 RCV000469189 SCV000541462 uncertain significance Werner syndrome 2016-07-10 criteria provided, single submitter clinical testing In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class 0"). This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a WRN-related disease. This sequence change replaces leucine with phenylalanine at codon 476 of the WRN protein (p.Leu476Phe). The leucine residue is weakly conserved and there is a small physicochemical difference between leucine and phenylalanine.

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