ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.291C>T (p.Ala97=)

gnomAD frequency: 0.00007  dbSNP: rs148404077
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000503242 SCV000597975 likely benign not specified 2017-01-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001857185 SCV002174803 likely benign not provided 2025-01-09 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002509075 SCV002769828 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 rs148404077 in Wolfram's syndrome yet.

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