ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.578dup (p.Gln194fs)

dbSNP: rs779272128
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV001291715 SCV001480300 uncertain significance Wolfram-like syndrome 2019-12-20 criteria provided, single submitter clinical testing
New York Genome Center RCV001291716 SCV001480301 likely pathogenic Wolfram syndrome 1 2019-12-20 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV001291716 SCV002773847 pathogenic 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 rs779272128 in Wolfram's syndrome yet.
Fulgent Genetics, Fulgent Genetics RCV005038027 SCV005664686 likely pathogenic Cataract 41; Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6; Type 2 diabetes mellitus; Wolfram-like syndrome 2023-12-27 criteria provided, single submitter clinical testing

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