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: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000462991 SCV000541421 uncertain significance Werner syndrome 2025-01-26 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). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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
3billion, Medical Genetics RCV000462991 SCV005328811 likely benign Werner syndrome 2024-09-20 criteria provided, single submitter clinical testing The homozygous variant was found in patients diagnosed with another variant in a different gene, with no symptoms related to the gene containing the homozygous variant.
Fulgent Genetics, Fulgent Genetics RCV000462991 SCV005679032 uncertain significance Werner syndrome 2024-01-06 criteria provided, single submitter clinical testing

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