Submissions for variant NM_006005.3(WFS1):c.2208C>T (p.Gly736=)

gnomAD frequency: 0.00006  dbSNP: rs141020933

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001704817	SCV000730495	likely benign	not provided	2019-11-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001153484	SCV001314777	uncertain significance	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 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.
Illumina Laboratory Services, Illumina	RCV001153485	SCV001314778	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.
Invitae	RCV001704817	SCV002400701	likely benign	not provided	2023-12-03	criteria provided, single submitter	clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	RCV003126869	SCV003802938	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 rs141020933 in Wolfram's syndrome yet.
CeGaT Center for Human Genetics Tuebingen	RCV001704817	SCV004147645	likely benign	not provided	2023-03-01	criteria provided, single submitter	clinical testing	WFS1: BP4, BP7
PreventionGenetics, part of Exact Sciences	RCV003965291	SCV004778298	likely benign	WFS1-related condition	2023-10-04	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).