ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.2643_2644del (p.Phe883fs)

dbSNP: rs863224268
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx 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, Christian Medical College 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, Uppaluri K&H Personalized Medicine Clinic 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, King Faisal Specialist Hospital and Research Centre RCV001668365 SCV004810277 likely pathogenic Wolfram syndrome 1 2024-04-04 criteria provided, single submitter clinical testing
Fulgent Genetics, 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

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