Submissions for variant NM_006005.3(WFS1):c.1152C>T (p.Phe384=)

gnomAD frequency: 0.00076  dbSNP: rs149846741

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000155338	SCV000205024	likely benign	not specified	2012-04-30	criteria provided, single submitter	clinical testing	Phe384Phe 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 0.1% (3/3738) of Afric an American chromosomes from a broad population by the NHLBI Exome Sequencing Pr oject (http://evs.gs.washington.edu/EVS; dbSNP rs149846741).
Eurofins Ntd Llc (ga)	RCV000733966	SCV000862074	uncertain significance	not provided	2018-06-28	criteria provided, single submitter	clinical testing
Invitae	RCV000733966	SCV001020839	likely benign	not provided	2024-01-25	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000733966	SCV001154163	likely benign	not provided	2021-06-01	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001153036	SCV001314282	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	RCV001153037	SCV001314283	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). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
GeneDx	RCV000733966	SCV001815379	likely benign	not provided	2021-03-06	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 15605410)
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	RCV002509042	SCV002817363	likely 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 rs149846741 in Wolfram's syndrome yet.
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000733966	SCV002036803	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000733966	SCV002037816	likely benign	not provided		no assertion criteria provided	clinical testing