ClinVar Miner

Submissions for variant NM_000553.6(WRN):c.3232A>G (p.Ser1078Gly)

dbSNP: rs543930395
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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 RCV000802690 SCV000942532 uncertain significance Werner syndrome 2018-09-22 criteria provided, single submitter clinical testing This sequence change replaces serine with glycine at codon 1078 of the WRN protein (p.Ser1078Gly). The serine residue is moderately conserved and there is a small physicochemical difference between serine and glycine. This variant is present in population databases (rs543930395, ExAC 0.02%). This variant has not been reported in the literature in individuals with WRN-related disease. 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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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