ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.353A>C (p.Asp118Ala) (rs71524349)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000155333 SCV000205019 benign not specified 2012-04-30 criteria provided, single submitter clinical testing Asp118Ala in Exon 04 of WFS1: This variant is not expected to have clinical sign ificance because it has been identified in 0.8% (28/3732) of African American ch romosomes from a broad population by the NHLBI Exome Sequencing Project (http://; dbSNP rs71524349).
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000155333 SCV000230298 benign not specified 2014-08-26 criteria provided, single submitter clinical testing
GeneDx RCV000155333 SCV000252510 likely benign not specified 2017-02-21 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 RCV000155333 SCV000311332 benign not specified criteria provided, single submitter clinical testing
Personalized Diabetes Medicine Program,University of Maryland School of Medicine RCV000445448 SCV000537003 benign Monogenic diabetes 2018-09-07 criteria provided, single submitter research ACMG criteria: PP3 (REVEL 0.801 + 10 predictors), BA1(0.9% MAF in gnomAD Africans when prevalence of Wolfram is 1:500000 which leads to carrier frequency of ~1:350/0.3%)=Benign
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000756930 SCV000884917 likely benign not provided 2018-05-26 criteria provided, single submitter clinical testing The WFS1 c.353A>C; p.Asp118Ala variant (rs71524349), is reported in the literature in an individual with prelingual nonsyndromic hearing loss (Sommen 2016); however, inheritance and specific clinical information were not reported for this individual. This variant has also been observed in our laboratory in the homozygous state in an individual who had an alternate molecular basis for disease. This variant is found in the African population with an allele frequency of 0.90% (203/22,568 alleles) in the Genome Aggregation Database and is reported as benign/likely benign in ClinVar (Variation ID: 178584). Based on the available information, this variant is classified as likely benign.
Invitae RCV000756930 SCV001014580 benign not provided 2018-06-26 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000756930 SCV001146655 likely benign not provided 2019-08-05 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000756930 SCV001249091 uncertain significance not provided 2019-08-01 criteria provided, single submitter clinical testing

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