ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.2012C>T (p.Ala671Val) (rs71530907)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000038649 SCV000062327 benign not specified 2016-01-26 criteria provided, single submitter clinical testing p.Ala671Val in Exon 8 of WFS1: This variant is not expected to have clinical si gnificance because it has been identified in 5% (832/16512) of South Asian chro mosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.or g; dbSNP rs71530907).
Illumina Clinical Services Laboratory,Illumina RCV000345107 SCV000450647 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). 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.
Illumina Clinical Services Laboratory,Illumina RCV000405887 SCV000450648 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.
GeneDx RCV000038649 SCV000515811 benign not specified 2015-06-19 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.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000755449 SCV000605612 benign not provided 2018-03-02 criteria provided, single submitter clinical testing
Personalized Diabetes Medicine Program,University of Maryland School of Medicine RCV000664091 SCV000787543 benign Monogenic diabetes 2017-11-10 criteria provided, single submitter research ACMG criteria: PP3 (3 predictors), BP4 (7 predictors), BS2 (140 cases and 135 controls in type2diabetesgenetics.org), BS1 (6% South Asian)=Benign
Invitae RCV000755449 SCV001730631 benign not provided 2020-11-10 criteria provided, single submitter clinical testing

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