Submissions for variant NM_006005.3(WFS1):c.154C>A (p.Pro52Thr)

dbSNP: rs111773340

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000729050	SCV000856684	uncertain significance	not provided	2017-09-18	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000729050	SCV001473334	likely benign	not provided	2019-09-12	criteria provided, single submitter	clinical testing
GeneDx	RCV000729050	SCV001783422	uncertain significance	not provided	2021-08-19	criteria provided, single submitter	clinical testing	Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function
Labcorp Genetics (formerly Invitae), Labcorp	RCV000729050	SCV002353718	likely benign	not provided	2025-01-08	criteria provided, single submitter	clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	RCV002509089	SCV002769815	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 rs111773340 in Wolfram's syndrome yet.
Mayo Clinic Laboratories, Mayo Clinic	RCV000729050	SCV005410509	uncertain significance	not provided	2023-11-22	criteria provided, single submitter	clinical testing	BP4
Fulgent Genetics, Fulgent Genetics	RCV005036054	SCV005664668	likely benign	Cataract 41; Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6; Type 2 diabetes mellitus; Wolfram-like syndrome	2024-06-24	criteria provided, single submitter	clinical testing