ClinVar Miner

Submissions for variant NM_000553.6(WRN):c.2983G>A (p.Ala995Thr)

gnomAD frequency: 0.00193  dbSNP: rs140768346
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000227936 SCV000285548 benign Werner syndrome 2024-01-30 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000122285 SCV000342314 likely benign not specified 2016-05-20 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000227936 SCV000473340 uncertain significance Werner syndrome 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
CeGaT Center for Human Genetics Tuebingen RCV000857886 SCV001155403 likely benign not provided 2024-08-01 criteria provided, single submitter clinical testing WRN: BP4, BS2
GeneDx RCV000857886 SCV001857413 benign not provided 2019-12-26 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 28051113, 24728327)
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV000857886 SCV002011293 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV004019696 SCV004978422 likely benign Inborn genetic diseases 2021-11-10 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
ITMI RCV000122285 SCV000086510 not provided not specified 2013-09-19 no assertion provided reference population

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