ClinVar Miner

Submissions for variant NM_002225.5(IVD):c.995G>T (p.Arg332Leu)

dbSNP: rs745464766
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001070595 SCV001235855 pathogenic Isovaleryl-CoA dehydrogenase deficiency 2023-08-17 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with leucine, which is neutral and non-polar, at codon 335 of the IVD protein (p.Arg335Leu). This variant is present in population databases (no rsID available, gnomAD 0.006%). This missense change has been observed in individual(s) with isovaleric acidemia (Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 863598). 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.Arg335 amino acid residue in IVD. Other variant(s) that disrupt this residue have been observed in individuals with IVD-related conditions (Invitae), which suggests that this may be a clinically significant amino acid residue. For these reasons, this variant has been classified as Pathogenic.
Natera, Inc. RCV001070595 SCV002094410 uncertain significance Isovaleryl-CoA dehydrogenase deficiency 2021-09-19 no assertion criteria provided clinical testing

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