ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.460+1G>A

dbSNP: rs1191510461
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001588798 SCV001814895 pathogenic not provided 2019-07-24 criteria provided, single submitter clinical testing Canonical splice site variant in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 25173644, 9817917, 12707373, 27468121, 21968327, 20972738, 11317350, 11554774)
Invitae RCV001588798 SCV004292289 pathogenic not provided 2023-01-10 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 4515). Disruption of this splice site has been observed in individual(s) with Wolfram syndrome (PMID: 9817917, 25173644, 27468121). It has also been observed to segregate with disease in related individuals. This sequence change affects a donor splice site in intron 4 of the WFS1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in WFS1 are known to be pathogenic (PMID: 12955714).
OMIM RCV000004773 SCV000024949 pathogenic Wolfram syndrome 1 1998-12-01 no assertion criteria provided literature only

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