ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.1320C>T (p.Thr440=)

gnomAD frequency: 0.00004  dbSNP: rs762339922
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000248752 SCV000311308 likely benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001403247 SCV001605112 likely benign not provided 2024-02-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500904 SCV002811215 likely benign Cataract 41; Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6; Type 2 diabetes mellitus; Wolfram-like syndrome 2022-01-06 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV003126655 SCV003801349 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 rs762339922 in Wolfram's syndrome yet.

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