ClinVar Miner

Submissions for variant NM_000553.6(WRN):c.1037C>T (p.Thr346Ile)

dbSNP: rs1554520892
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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 RCV000633222 SCV000754438 uncertain significance Werner syndrome 2020-01-09 criteria provided, single submitter clinical testing 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 do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with WRN-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces threonine with isoleucine at codon 346 of the WRN protein (p.Thr346Ile). The threonine residue is weakly conserved and there is a moderate physicochemical difference between threonine and isoleucine.

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