Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000199613 | SCV000252553 | pathogenic | not provided | 2014-04-29 | criteria provided, single submitter | clinical testing | The c.2643_2644delCT mutation has been reported previously in association with Wolfram syndrome (Inoue et al., 1998). The deletion causes a frameshift starting with codon Phenylalanine 883, changes this amino acid to a Leucine residue and creates a Stop codon at position 56 of the new reading frame, denoted p.Phe883LeufsX56. This mutation is predicted to result in the last 8 correct amino acids in the WFS1 protein being replaced with 55 incorrect amino acids, which is expected to damage the structure/function of the protein. The variant is found in OAPEO-MITOP panel(s). |
Molecular Endocrinology Laboratory, |
RCV001668365 | SCV001890914 | pathogenic | Wolfram syndrome 1 | criteria provided, single submitter | clinical testing | ||
MGZ Medical Genetics Center | RCV001668365 | SCV002578927 | pathogenic | Wolfram syndrome 1 | 2022-05-03 | criteria provided, single submitter | clinical testing | |
Clinical Genomics, |
RCV001668365 | SCV003804297 | 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 rs863224268 in Wolfram's syndrome yet. | |
Baylor Genetics | RCV001668365 | SCV003835172 | pathogenic | Wolfram syndrome 1 | 2022-01-10 | criteria provided, single submitter | clinical testing | |
Genomic Medicine Center of Excellence, |
RCV001668365 | SCV004810277 | likely pathogenic | Wolfram syndrome 1 | 2024-04-04 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV005042421 | SCV005667596 | pathogenic | Cataract 41; Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6; Type 2 diabetes mellitus; Wolfram-like syndrome | 2024-04-06 | criteria provided, single submitter | clinical testing | |
OMIM | RCV001668365 | SCV000024941 | pathogenic | Wolfram syndrome 1 | 1998-10-01 | no assertion criteria provided | literature only |