ClinVar Miner

Submissions for variant NM_000553.6(WRN):c.1189A>G (p.Ile397Val)

gnomAD frequency: 0.00002  dbSNP: rs767571801
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001368115 SCV001564496 uncertain significance Werner syndrome 2020-04-01 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with valine at codon 397 of the WRN protein (p.Ile397Val). The isoleucine residue is moderately conserved and there is a small physicochemical difference between isoleucine and valine. This variant is present in population databases (rs767571801, ExAC 0.02%). This variant has not been reported in the literature in individuals with WRN-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: Not available; PolyPhen-2: Benign; Align-GVGD: Not available. The valine 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. 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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