ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.1863G>C (p.Val621=)

gnomAD frequency: 0.00002  dbSNP: rs779337227
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000880097 SCV001023168 likely benign not provided 2023-09-11 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV003127538 SCV003802946 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 rs779337227 in Wolfram's syndrome yet.

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