ClinVar Miner

Submissions for variant NM_183050.4(BCKDHB):c.580C>T (p.Leu194Phe)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital RCV003149167 SCV003836803 pathogenic Maple syrup urine disease criteria provided, single submitter clinical testing
Invitae RCV003149167 SCV004294634 likely pathogenic Maple syrup urine disease 2023-08-24 criteria provided, single submitter clinical testing 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. This variant disrupts the p.Leu194 amino acid residue in BCKDHB. Other variant(s) that disrupt this residue have been observed in individuals with BCKDHB-related conditions (PMID: 25748408, 30228974, 31980395), which suggests that this may be a clinically significant amino acid residue. 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. ClinVar contains an entry for this variant (Variation ID: 2442395). This missense change has been observed in individual(s) with maple syrup urine disease (PMID: 25748408, 31980395). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 194 of the BCKDHB protein (p.Leu194Phe).

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