ClinVar Miner

Submissions for variant NM_002225.5(IVD):c.1030G>A (p.Ala344Thr)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003009102 SCV003298294 likely pathogenic Isovaleryl-CoA dehydrogenase deficiency 2024-11-05 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 347 of the IVD protein (p.Ala347Thr). This variant is present in population databases (no rsID available, gnomAD 0.003%). This missense change has been observed in individual(s) with isovaleric acidemia (PMID: 31442447, 33496032). 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: 2083374). 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. 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 RCV003009102 SCV004198005 pathogenic Isovaleryl-CoA dehydrogenase deficiency 2024-03-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV003009102 SCV005635636 likely pathogenic Isovaleryl-CoA dehydrogenase deficiency 2024-05-23 criteria provided, single submitter clinical testing

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