ClinVar Miner

Submissions for variant NM_002225.5(IVD):c.1112T>C (p.Val371Ala)

gnomAD frequency: 0.00001  dbSNP: rs754600862
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000800024 SCV000939721 pathogenic Isovaleryl-CoA dehydrogenase deficiency 2023-10-05 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 374 of the IVD protein (p.Val374Ala). This variant is present in population databases (rs754600862, gnomAD 0.002%). This missense change has been observed in individual(s) with isovaleric acidemia (PMID: 9665741; 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: 645855). 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. Experimental studies have shown that this missense change affects IVD function (PMID: 9665741). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000800024 SCV004198032 likely pathogenic Isovaleryl-CoA dehydrogenase deficiency 2023-05-26 criteria provided, single submitter clinical testing

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