ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.631+12C>T

gnomAD frequency: 0.00076  dbSNP: rs183980454
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Total submissions: 5
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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 RCV000223620 SCV000269959 benign not specified 2016-03-29 criteria provided, single submitter clinical testing 631+12C>T in Intron 05 of WFS1: This variant is not expected to have clinical si gnificance because it is not located within the conserved splice consensus seque nce and has been identified in 0.3% (25/9514) of African chromosomes by the Exom e Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs18398045 4).
GeneDx RCV000223620 SCV000515268 benign not specified 2015-04-20 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001522280 SCV001731795 benign not provided 2024-08-12 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002509052 SCV002773853 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 rs183980454 in Wolfram's syndrome yet.
Breakthrough Genomics, Breakthrough Genomics RCV001522280 SCV005297846 benign not provided criteria provided, single submitter not provided

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