ClinVar Miner

Submissions for variant NM_000553.6(WRN):c.32A>C (p.Gln11Pro)

dbSNP: rs1210013520
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000699537 SCV000828252 uncertain significance Werner syndrome 2020-10-19 criteria provided, single submitter clinical testing This sequence change replaces glutamine with proline at codon 11 of the WRN protein (p.Gln11Pro). The glutamine residue is weakly conserved and there is a moderate physicochemical difference between glutamine and proline. 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The proline amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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).

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