ClinVar Miner

Submissions for variant NM_000553.6(WRN):c.968C>T (p.Ser323Leu) (rs369277330)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000470767 SCV000541405 uncertain significance Werner syndrome 2020-10-29 criteria provided, single submitter clinical testing This sequence change replaces serine with leucine at codon 323 of the WRN protein (p.Ser323Leu). The serine residue is weakly conserved and there is a large physicochemical difference between serine and leucine. This variant is present in population databases (rs369277330, ExAC 0.03%). This variant has not been reported in the literature in individuals with WRN-related disease. ClinVar contains an entry for this variant (Variation ID: 135451). 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 tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
ITMI RCV000122308 SCV000086537 not provided not specified 2013-09-19 no assertion provided reference population

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