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

gnomAD frequency: 0.00279  dbSNP: rs71524349

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham 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:// evs.gs.washington.edu/EVS; dbSNP rs71524349).
Eurofins Ntd Llc (ga)	RCV000155333	SCV000230298	benign	not specified	2014-08-26	criteria provided, single submitter	clinical testing
GeneDx	RCV000756930	SCV000252510	likely benign	not provided	2021-07-07	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 26435059, 27068579)
PreventionGenetics, part of Exact Sciences	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000756930	SCV001014580	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000756930	SCV001146655	likely benign	not provided	2019-08-05	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000756930	SCV001249091	uncertain significance	not provided	2019-08-01	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000155333	SCV002034442	benign	not specified		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000756930	SCV002036941	likely benign	not provided		no assertion criteria provided	clinical testing