ClinVar Miner

Submissions for variant NM_002225.5(IVD):c.1229_1256del (p.Arg410fs)

dbSNP: rs1555405428
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666290 SCV000790557 likely pathogenic Isovaleryl-CoA dehydrogenase deficiency 2017-03-28 criteria provided, single submitter clinical testing
Invitae RCV000666290 SCV004478100 pathogenic Isovaleryl-CoA dehydrogenase deficiency 2023-12-09 criteria provided, single submitter clinical testing This sequence change results in a frameshift in the IVD gene (p.Arg413Metfs*24). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 14 amino acid(s) of the IVD protein and extend the protein by 9 additional amino acid residues. This variant is not present in population databases (gnomAD no frequency). 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: 551276). This variant disrupts a region of the IVD protein in which other variant(s) (p.Arg414Trp) have been determined to be pathogenic (PMID: 25220015; Invitae). 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.

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