ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.1805C>T (p.Ala602Val) (rs2230720)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000038644 SCV000062322 benign not specified 2012-05-07 criteria provided, single submitter clinical testing Ala602Val in Exon 08 of WFS1: This variant is not expected to have clinical sign ificance because it has been identified in 9.0% (336/3738) of African American c hromosomes from a broad population by the NHLBI Exome Sequencing Project (http:/ /evs.gs.washington.edu/EVS; dbSNP rs2230720).
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000038644 SCV000113265 benign not specified 2013-08-14 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000038644 SCV000153527 benign not specified 2013-08-16 criteria provided, single submitter clinical testing
GeneDx RCV000038644 SCV000169827 benign not specified 2013-03-20 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
PreventionGenetics,PreventionGenetics RCV000038644 SCV000311316 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000374202 SCV000450642 likely benign Autosomal dominant nonsyndromic deafness 6 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Clinical Services Laboratory,Illumina RCV000284377 SCV000450643 likely benign WFS1-Related Spectrum Disorders 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Personalized Diabetes Medicine Program,University of Maryland School of Medicine RCV000445501 SCV000537015 benign Monogenic diabetes 2019-02-15 criteria provided, single submitter research ACMG criteria: BA1 (9.3% in gnomAD), BP4 (9 predictors, Revel score 0.271), BS2 (219 controls in T2DM, 104 homozygotes in gnomAD) [BP6 (Chicago, Emory, Partners, and GeneDx all call benign but no longer using BP6)]=benign
Invitae RCV000870649 SCV001012172 benign not provided 2020-12-05 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001282628 SCV001158811 benign none provided 2020-02-14 criteria provided, single submitter clinical testing

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