Submissions for variant NM_006005.3(WFS1):c.801C>T (p.Asp267=)

gnomAD frequency: 0.00016  dbSNP: rs147734431

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000877251	SCV001019962	likely benign	not provided	2024-11-20	criteria provided, single submitter	clinical testing
GeneDx	RCV000877251	SCV001831875	likely benign	not provided	2021-03-06	criteria provided, single submitter	clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	RCV002509108	SCV002774907	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 rs147734431 in Wolfram's syndrome yet.
Fulgent Genetics, Fulgent Genetics	RCV002495325	SCV002795248	likely benign	Cataract 41; Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6; Type 2 diabetes mellitus; Wolfram-like syndrome	2022-03-15	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004738044	SCV005353135	likely benign	WFS1-related disorder	2024-06-21	no assertion criteria provided	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).