ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.1495C>T (p.Leu499Phe) (rs114152068)

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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 RCV000038640 SCV000062318 benign not specified 2012-05-07 criteria provided, single submitter clinical testing Leu499Phe in Exon 08 of WFS1: This variant is not expected to have clinical sign ificance because it has been identified in 2.6% (98/3738) of African American ch romosomes from a broad population by the NHLBI Exome Sequencing Project (http:// evs.gs.washington.edu/EVS; dbSNP rs114152068).
GeneDx RCV000038640 SCV000252485 benign not specified 2014-06-23 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.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000038640 SCV000341004 benign not specified 2016-05-26 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000329452 SCV000450618 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.
Illumina Clinical Services Laboratory,Illumina RCV000384013 SCV000450619 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.
Personalized Diabetes Medicine Program,University of Maryland School of Medicine RCV000664089 SCV000787541 benign Monogenic diabetes 2019-01-11 criteria provided, single submitter research ACMG criteria: BA1 (2.5% in gnomAD Africans), BS2 (equal cases and controls in T2DM and 3 homozygotes in gnomAD) (REVEL 0.229 + PP3/3 predictors + BP4/6 predictors= conflicting evidence, not using)=benign
Invitae RCV000870509 SCV001012010 benign not provided 2020-11-23 criteria provided, single submitter clinical testing

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