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

gnomAD frequency: 0.00021  dbSNP: rs71530907

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham 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 Laboratory Services, Illumina	RCV000345107	SCV000450647	likely benign	Autosomal dominant nonsyndromic hearing loss 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 Laboratory Services, 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	2024-01-22	criteria provided, single submitter	clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	RCV002463628	SCV002605206	benign	Wolfram syndrome 1		criteria provided, single submitter	research	Potent mutations in WFS1 gene are associated with Wolfram's syndrome, an autosomal recessive condition, which cause diabetes mellitus, diabetes insipidus, deafness and optic atrophy.However no sufficient evidence is found to ascertain the role of this particular variant rs71530907 yet.
CeGaT Center for Human Genetics Tuebingen	RCV000755449	SCV004034045	benign	not provided	2023-07-01	criteria provided, single submitter	clinical testing	WFS1: BS1, BS2