ClinVar Miner

Submissions for variant NM_000709.4(BCKDHA):c.979G>A (p.Glu327Lys)

gnomAD frequency: 0.00001  dbSNP: rs398123515
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000790719 SCV000232085 likely pathogenic not provided 2013-09-05 criteria provided, single submitter clinical testing
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital RCV000179779 SCV000240046 pathogenic Maple syrup urine disease 2012-01-01 criteria provided, single submitter research
Counsyl RCV000179779 SCV000789537 likely pathogenic Maple syrup urine disease 2017-02-14 criteria provided, single submitter clinical testing
Invitae RCV000179779 SCV001235159 pathogenic Maple syrup urine disease 2024-01-29 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 327 of the BCKDHA protein (p.Glu327Lys). This variant is present in population databases (rs398123515, gnomAD 0.006%). This missense change has been observed in individual(s) with biochemical or clinical diagnosis of maple syrup urine disease (PMID: 11825067, 16786533, 26257134). 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: 93385). 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 95%. For these reasons, this variant has been classified as Pathogenic.
Genome-Nilou Lab RCV000179779 SCV002033517 pathogenic Maple syrup urine disease 2021-11-07 criteria provided, single submitter clinical testing
GeneDx RCV000790719 SCV002759236 uncertain significance not provided 2022-11-26 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 16786533, 31980395, 11825067, 26257134)
Baylor Genetics RCV000179779 SCV004215882 pathogenic Maple syrup urine disease 2023-09-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV001275918 SCV001461597 pathogenic Maple syrup urine disease type 1A 2020-09-16 no assertion criteria provided clinical testing

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