ClinVar Miner

Submissions for variant NM_000709.4(BCKDHA):c.647C>T (p.Ala216Val)

gnomAD frequency: 0.00001  dbSNP: rs369448982
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV001780680 SCV002022030 likely pathogenic Maple syrup urine disease 2023-04-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV004571095 SCV002809922 likely pathogenic Maple syrup urine disease type 1A 2024-02-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001780680 SCV003523014 pathogenic Maple syrup urine disease 2024-01-31 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 216 of the BCKDHA protein (p.Ala216Val). This variant is present in population databases (rs369448982, gnomAD 0.01%). This missense change has been observed in individual(s) with maple syrup urine disease and/or MSUD (PMID: 16786533, 31980395, 34556729). 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: 1323975). 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 tolerated. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV004571095 SCV004215867 likely pathogenic Maple syrup urine disease type 1A 2024-03-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003892844 SCV004711572 pathogenic BCKDHA-related disorder 2024-01-30 no assertion criteria provided clinical testing The BCKDHA c.647C>T variant is predicted to result in the amino acid substitution p.Ala216Val. This variant has been reported in patients with autosomal recessive maple syrup urine disease (Rodriguez-Pombo et al. 2006. PubMed ID: 16786533; Table S1, Strauss et al. 2020. PubMed ID: 31980395; Fang et al. 2021. PubMed ID: 34556729). This variant is reported in 0.013% of alleles in individuals of African descent in gnomAD. This variant is interpreted as pathogenic.

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