ClinVar Miner

Submissions for variant NM_000709.4(BCKDHA):c.370C>T (p.Arg124Trp)

gnomAD frequency: 0.00003  dbSNP: rs398123499
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000177087 SCV000228909 likely pathogenic not provided 2013-09-03 criteria provided, single submitter clinical testing
Invitae RCV001854398 SCV002275310 pathogenic Maple syrup urine disease 2024-01-04 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 124 of the BCKDHA protein (p.Arg124Trp). This variant is present in population databases (rs398123499, gnomAD 0.005%). This missense change has been observed in individual(s) with maple syrup urine disease (PMID: 31980395; 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: 93356). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt BCKDHA protein function with a positive predictive value of 80%. For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV001854398 SCV002816002 likely pathogenic Maple syrup urine disease 2021-07-23 criteria provided, single submitter clinical testing
Baylor Genetics RCV001854398 SCV004215861 pathogenic Maple syrup urine disease 2023-10-29 criteria provided, single submitter clinical testing

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