ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.2181C>T (p.Ile727=)

gnomAD frequency: 0.00005  dbSNP: rs140286718
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000180292 SCV000232698 uncertain significance not provided 2015-03-20 criteria provided, single submitter clinical testing
GeneDx RCV000180292 SCV001763925 likely benign not provided 2021-03-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000180292 SCV002331166 likely benign not provided 2024-07-13 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV003126572 SCV003802882 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 rs140286718 in Wolfram's syndrome yet.

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