ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.363C>T (p.Leu121=)

gnomAD frequency: 0.00063  dbSNP: rs140229545
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000878734 SCV001021689 benign not provided 2025-01-20 criteria provided, single submitter clinical testing
GeneDx RCV000878734 SCV001788393 likely benign not provided 2020-11-24 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002509109 SCV002769842 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 rs140229545 in Wolfram's syndrome yet.

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