ClinVar Miner

Submissions for variant NM_000553.6(WRN):c.3893G>T (p.Gly1298Val)

gnomAD frequency: 0.00002  dbSNP: rs202129203
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000462991 SCV000541421 uncertain significance Werner syndrome 2022-09-12 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1298 of the WRN protein (p.Gly1298Val). This variant is present in population databases (rs202129203, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with WRN-related conditions. ClinVar contains an entry for this variant (Variation ID: 404001). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Not Available"). 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.
Baylor Genetics RCV000462991 SCV002030123 uncertain significance Werner syndrome 2021-06-29 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University RCV003153572 SCV003843576 likely pathogenic Ovarian cancer 2022-01-01 criteria provided, single submitter clinical testing

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