ClinVar Miner

Submissions for variant NM_183050.4(BCKDHB):c.1067C>T (p.Pro356Leu)

gnomAD frequency: 0.00001  dbSNP: rs1304667430
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000672025 SCV003439999 pathogenic Maple syrup urine disease 2024-01-19 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 356 of the BCKDHB protein (p.Pro356Leu). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with maple syrup urine disease (PMID: 18378174, 31980395, 33955723; Invitae). ClinVar contains an entry for this variant (Variation ID: 556079). 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 BCKDHB protein function with a positive predictive value of 80%. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV004568547 SCV004210771 pathogenic Maple syrup urine disease type 1A 2024-03-25 criteria provided, single submitter clinical testing
Counsyl RCV000672025 SCV000797080 uncertain significance Maple syrup urine disease 2018-01-11 flagged submission clinical testing

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