Submissions for variant NM_006005.3(WFS1):c.1470C>T (p.Thr490=)

gnomAD frequency: 0.00025  dbSNP: rs146027767

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000155341	SCV000205027	likely benign	not specified	2012-04-30	criteria provided, single submitter	clinical testing	Thr490Thr 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% (5/7020) of Europ ean American chromosomes from a broad population by the NHLBI Exome Sequencing P roject (http://evs.gs.washington.edu/EVS; dbSNP rs146027767).
GeneDx	RCV001503148	SCV000730494	likely benign	not provided	2021-03-05	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001503148	SCV001707997	likely benign	not provided	2025-01-20	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002498752	SCV002805862	likely benign	Cataract 41; Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6; Type 2 diabetes mellitus; Wolfram-like syndrome	2021-08-11	criteria provided, single submitter	clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	RCV003126553	SCV003801373	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 rs146027767 in Wolfram's syndrome yet.
CeGaT Center for Human Genetics Tuebingen	RCV001503148	SCV004147636	likely benign	not provided	2022-05-01	criteria provided, single submitter	clinical testing	WFS1: BP4, BP7