Submissions for variant NM_006005.3(WFS1):c.2250C>T (p.Ala750=)

gnomAD frequency: 0.00023  dbSNP: rs369498603

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000220143	SCV000271195	likely benign	not specified	2012-04-30	criteria provided, single submitter	clinical testing	Ala750Ala in Exon 08 of WFS1: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 2/6990 European Americ an chromosomes from a broad population by the NHLBI Exome Sequencing Project (ht tp://evs.gs.washington.edu/EVS).
GeneDx	RCV000993558	SCV000529216	likely benign	not provided	2020-07-13	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000220143	SCV000597978	likely benign	not specified	2016-06-13	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000993558	SCV001146653	likely benign	not provided	2019-05-15	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001156085	SCV001317567	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	RCV001156086	SCV001317568	uncertain significance	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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
CeGaT Center for Human Genetics Tuebingen	RCV000993558	SCV001334571	likely benign	not provided	2022-09-01	criteria provided, single submitter	clinical testing	WFS1: BP4, BP7
Invitae	RCV000993558	SCV002363403	likely benign	not provided	2023-12-07	criteria provided, single submitter	clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	RCV003128239	SCV003804236	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 rs369498603 in Wolfram's syndrome yet.
PreventionGenetics, part of Exact Sciences	RCV003929902	SCV004743408	likely benign	WFS1-related condition	2020-02-12	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000993558	SCV002037025	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000993558	SCV002038469	likely benign	not provided		no assertion criteria provided	clinical testing