ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.816C>T (p.Asp272=)

gnomAD frequency: 0.00001  dbSNP: rs762774307
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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 RCV000602954 SCV000712405 likely benign not specified 2016-08-04 criteria provided, single submitter clinical testing p.Asp272Asp in exon 7 of WFS1 : This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 4/16508 South Asia n chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstit ute.org; dbSNP rs762774307).
Labcorp Genetics (formerly Invitae), Labcorp RCV002062136 SCV002426141 likely benign not provided 2025-01-15 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002509464 SCV002774922 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 rs762774307 in Wolfram's syndrome yet.
Fulgent Genetics, Fulgent Genetics RCV002483676 SCV002796481 likely benign Cataract 41; Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6; Type 2 diabetes mellitus; Wolfram-like syndrome 2022-03-05 criteria provided, single submitter clinical testing

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