ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.1549del (p.Arg517fs)

dbSNP: rs2109126109
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001572293 SCV001796907 pathogenic not provided 2022-03-21 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation as the final 374 amino acids are replaced by 4 incorrect amino acids and other loss-of-function variants have been reported downstream in HGMD; Not observed in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 28432734, 29277467, 23748048, 10521293)
Labcorp Genetics (formerly Invitae), Labcorp RCV001572293 SCV003525593 pathogenic not provided 2022-11-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg517Alafs*5) in the WFS1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 374 amino acid(s) of the WFS1 protein. This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Wolfram syndrome (PMID: 10521293). ClinVar contains an entry for this variant (Variation ID: 1205588). This variant disrupts a region of the WFS1 protein in which other variant(s) (p.Pro885Leu) have been determined to be pathogenic (PMID: 10521293, 16806192, 28432734). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005023201 SCV005660260 pathogenic Cataract 41; Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6; Type 2 diabetes mellitus; Wolfram-like syndrome 2024-03-29 criteria provided, single submitter clinical testing

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