ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.1441_1447dup (p.Val483fs)

dbSNP: rs727503745
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Total submissions: 3
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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 RCV000152660 SCV000202014 pathogenic Rare genetic deafness 2013-06-05 criteria provided, single submitter clinical testing The Val483fs variant in WFS1 has been reported in the homozygous state in one Sa udi Arabian individual with clinical features of Wolfram syndrome, also known as DIDMOAD (Inoue 1998). This frameshift variant is predicted to alter the protei n?s amino acid sequence beginning at position 483 and lead to a premature termin ation codon 62 amino acids downstream. This alteration is then predicted to lead to a truncated or absent protein. Truncating variants in WFS1 are established a s pathogenic for Wolfram syndrome. In summary, this variant meets our criteria t o be classified as pathogenic (http://www.pcpgm.partners.org/lmm).
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002273965 SCV003801368 likely 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 rs727503745 in Wolfram's syndrome yet.
OMIM RCV002273965 SCV000024947 pathogenic Wolfram syndrome 1 1998-10-01 no assertion criteria provided literature only

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