ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.1944G>A (p.Trp648Ter)

gnomAD frequency: 0.00001  dbSNP: rs104893879
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003114176 SCV003788078 pathogenic not provided 2023-06-22 criteria provided, single submitter clinical testing This variant is present in population databases (rs104893879, gnomAD 0.002%). This premature translational stop signal has been observed in individual(s) with autosomal recessive Wolfram syndrome (PMID: 8808601, 9771706, 10521293, 28432734). It has also been observed to segregate with disease in related individuals. This variant is also known as 2114G‚ÜíA W648X. ClinVar contains an entry for this variant (Variation ID: 4511). For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Trp648*) in the WFS1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 243 amino acid(s) of the WFS1 protein.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV000004769 SCV003804220 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 rs104893879 in Wolfram's syndrome yet.
OMIM RCV000004769 SCV000024945 pathogenic Wolfram syndrome 1 1998-10-01 no assertion criteria provided literature only

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