Submissions for variant NM_006005.3(WFS1):c.342C>T (p.Ala114=)

gnomAD frequency: 0.00007  dbSNP: rs201151892

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000872226	SCV000535359	likely benign	not provided	2021-05-08	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000430540	SCV000712170	benign	not specified	2016-05-23	criteria provided, single submitter	clinical testing	p.Ala114Ala in exon 4 of WFS1: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue, it is not located wit hin the splice consensus sequence, and it has been identified in 0.5% (34/6800) of Latino chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.bro adinstitute.org; dbSNP rs201151892).
Invitae	RCV000872226	SCV001014012	benign	not provided	2024-01-18	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000430540	SCV002064716	likely benign	not specified	2019-07-10	criteria provided, single submitter	clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	RCV002509069	SCV002769839	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 rs201151892 in Wolfram's syndrome yet.
Fulgent Genetics, Fulgent Genetics	RCV002502588	SCV002809031	likely benign	Cataract 41; Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6; Type 2 diabetes mellitus; Wolfram-like syndrome	2021-12-29	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003960002	SCV004770585	likely benign	WFS1-related condition	2020-02-05	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).