ClinVar Miner

Submissions for variant NM_002225.5(IVD):c.784+1G>A

gnomAD frequency: 0.00001  dbSNP: rs763471771
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000179846 SCV000232161 pathogenic not provided 2014-07-23 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000762946 SCV000893370 pathogenic Isovaleryl-CoA dehydrogenase deficiency 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000762946 SCV002313715 likely pathogenic Isovaleryl-CoA dehydrogenase deficiency 2023-03-01 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 7 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). This variant is present in population databases (rs763471771, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with IVD-related conditions. ClinVar contains an entry for this variant (Variation ID: 198480). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.
Baylor Genetics RCV000762946 SCV004198034 likely pathogenic Isovaleryl-CoA dehydrogenase deficiency 2023-05-13 criteria provided, single submitter clinical testing

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