ClinVar Miner

Submissions for variant NM_002225.5(IVD):c.1231C>T (p.Arg411Trp)

gnomAD frequency: 0.00001  dbSNP: rs1237032588
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000989290 SCV001139552 pathogenic Isovaleryl-CoA dehydrogenase deficiency 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV000989290 SCV002185544 pathogenic Isovaleryl-CoA dehydrogenase deficiency 2023-10-22 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 414 of the IVD protein (p.Arg414Trp). This variant is present in population databases (no rsID available, gnomAD 0.007%). This missense change has been observed in individual(s) with isovaleric acidemia (PMID: 25220015; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is also known as c.1231C>T, Arg382Trp. ClinVar contains an entry for this variant (Variation ID: 803069). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. This variant disrupts the p.Arg414 amino acid residue in IVD. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 9665741; Invitae). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000989290 SCV004198046 likely pathogenic Isovaleryl-CoA dehydrogenase deficiency 2023-01-10 criteria provided, single submitter clinical testing

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