ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.2103C>T (p.Thr701=)

gnomAD frequency: 0.00008  dbSNP: rs113800346
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000152690 SCV000202063 likely benign not specified 2013-09-18 criteria provided, single submitter clinical testing Thr701Thr in Exon 08 of WFS1: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence.
GeneDx RCV001707537 SCV000721056 likely benign not provided 2018-08-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001707537 SCV002367820 likely benign not provided 2022-07-19 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV003128186 SCV003804223 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 rs113800346 in Wolfram's syndrome yet.

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