ClinVar Miner

Submissions for variant NM_002225.5(IVD):c.144+1G>A

dbSNP: rs928991928
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000412035 SCV000486086 likely pathogenic Isovaleryl-CoA dehydrogenase deficiency 2016-03-28 criteria provided, single submitter clinical testing
Invitae RCV000412035 SCV001229627 likely pathogenic Isovaleryl-CoA dehydrogenase deficiency 2022-06-10 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: 370705). This variant has not been reported in the literature in individuals affected with IVD-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change affects a donor splice site in intron 1 of the IVD 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 IVD are known to be pathogenic (PMID: 16602101).
Baylor Genetics RCV000412035 SCV004198020 likely pathogenic Isovaleryl-CoA dehydrogenase deficiency 2023-08-09 criteria provided, single submitter clinical testing
Natera, Inc. RCV000412035 SCV002094381 likely pathogenic Isovaleryl-CoA dehydrogenase deficiency 2021-03-09 no assertion criteria provided clinical testing

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