Submissions for variant NM_006005.3(WFS1):c.2356G>A (p.Gly786Ser)

gnomAD frequency: 0.00239  dbSNP: rs71578980

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000081340	SCV000113268	benign	not specified	2013-08-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000081340	SCV000169835	benign	not specified	2014-05-12	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.
Illumina Laboratory Services, Illumina	RCV000301562	SCV000450675	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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina	RCV000361228	SCV000450676	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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000081340	SCV000711255	benign	not specified	2012-04-30	criteria provided, single submitter	clinical testing	Gly786Ser in Exon 08 of WFS1: This variant is not expected to have clinical sign ificance because it has been identified in 0.6% (22/3698) of African American ch romosomes from a broad population by the NHLBI Exome Sequencing Project (http:// evs.gs.washington.edu/EVS; dbSNP rs71578980).
Invitae	RCV000872722	SCV001014581	likely benign	not provided	2023-12-31	criteria provided, single submitter	clinical testing
Personalized Diabetes Medicine Program, University of Maryland School of Medicine	RCV001174427	SCV001337565	benign	Monogenic diabetes	2019-02-08	criteria provided, single submitter	research	ACMG criteria: BP4 (REVEL 0.142 + 8 predictors; not using PP3/2 predictors), BS2 (20 cases and 19 controls in type2diabetesgenetics.org), BS1 (0.75% MAF in Africans in gnomAD)= benign
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	RCV002464007	SCV002605297	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 rs71578980 yet.
CeGaT Center for Human Genetics Tuebingen	RCV000872722	SCV004147646	likely benign	not provided	2023-11-01	criteria provided, single submitter	clinical testing	WFS1: BP4
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000872722	SCV001956912	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000872722	SCV001966610	likely benign	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000872722	SCV002036801	likely benign	not provided		no assertion criteria provided	clinical testing