ClinVar Miner

Submissions for variant NM_000709.4(BCKDHA):c.454G>A (p.Asp152Asn)

dbSNP: rs2122122610
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV002249293 SCV002518565 pathogenic Maple syrup urine disease 2022-05-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002249293 SCV003443336 likely pathogenic Maple syrup urine disease 2023-12-11 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 152 of the BCKDHA protein (p.Asp152Asn). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with maple syrup urine disease (PMID: 18378174; Invitae). ClinVar contains an entry for this variant (Variation ID: 1685566). 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%. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005017161 SCV005648297 likely pathogenic Maple syrup urine disease type 1A 2024-02-15 criteria provided, single submitter clinical testing

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