Submissions for variant NM_006005.3(WFS1):c.825G>A (p.Ala275=)

gnomAD frequency: 0.00016  dbSNP: rs566634291

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000156803	SCV000206524	likely benign	not specified	2014-10-01	criteria provided, single submitter	clinical testing	p.Ala275Ala in exon 7 of WSF1: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence.
GeneDx	RCV000156803	SCV000252479	benign	not specified	2014-12-10	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.
Invitae	RCV000904623	SCV001049147	likely benign	not provided	2024-01-26	criteria provided, single submitter	clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	RCV002509258	SCV002774924	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 rs566634291 in Wolfram's syndrome yet.
Fulgent Genetics, Fulgent Genetics	RCV002484957	SCV002799928	likely benign	Cataract 41; Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6; Type 2 diabetes mellitus; Wolfram-like syndrome	2021-09-16	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003965170	SCV004783007	likely benign	WFS1-related condition	2019-09-19	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)	RCV000904623	SCV002035707	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000904623	SCV002038043	likely benign	not provided		no assertion criteria provided	clinical testing