ClinVar Miner

Submissions for variant NM_000709.4(BCKDHA):c.757G>A (p.Ala253Thr)

gnomAD frequency: 0.00001  dbSNP: rs199599175
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674422 SCV000799757 likely pathogenic Maple syrup urine disease 2018-05-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000674422 SCV001374116 pathogenic Maple syrup urine disease 2022-10-06 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 253 of the BCKDHA protein (p.Ala253Thr). For these reasons, this variant has been classified as Pathogenic. 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on BCKDHA protein function. ClinVar contains an entry for this variant (Variation ID: 558191). This variant is also known as A209T. This missense change has been observed in individual(s) with maple syrup urine disease (PMID: 8161368, 16786533, 17922217). This variant is present in population databases (rs199599175, gnomAD 0.007%).
Baylor Genetics RCV000674422 SCV004215897 pathogenic Maple syrup urine disease 2023-07-05 criteria provided, single submitter clinical testing
Natera, Inc. RCV001835912 SCV002088156 likely pathogenic Maple syrup urine disease type 1A 2020-03-31 no assertion criteria provided clinical testing

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