ClinVar Miner

Submissions for variant NM_000553.6(WRN):c.2012A>G (p.His671Arg)

gnomAD frequency: 0.00001  dbSNP: rs1060500060
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000471180 SCV000541408 uncertain significance Werner syndrome 2016-12-14 criteria provided, single submitter clinical testing This sequence change replaces histidine with arginine at codon 671 of the WRN protein (p.His671Arg). The histidine residue is highly conserved and there is a small physicochemical difference between histidine and arginine. 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies. 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.

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