ClinVar Miner

Submissions for variant NM_033305.3(VPS13A):c.7419+1G>A

dbSNP: rs763654348
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV001785122 SCV002020863 pathogenic Chorea-acanthocytosis 2019-12-12 criteria provided, single submitter clinical testing
Invitae RCV003772144 SCV004684972 likely pathogenic not provided 2023-05-09 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely 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: 1323748). This variant has not been reported in the literature in individuals affected with VPS13A-related conditions. This variant is present in population databases (rs763654348, gnomAD 0.003%). This sequence change affects a donor splice site in intron 53 of the VPS13A 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 VPS13A are known to be pathogenic (PMID: 12404112, 21598378).

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