ClinVar Miner

Submissions for variant NM_183050.4(BCKDHB):c.854G>A (p.Arg285Gln)

gnomAD frequency: 0.00001  dbSNP: rs761827220
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001559211 SCV001781330 uncertain significance Maple syrup urine disease 2021-07-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001559211 SCV003523542 uncertain significance Maple syrup urine disease 2022-06-27 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 285 of the BCKDHB protein (p.Arg285Gln). This variant is present in population databases (rs761827220, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with BCKDHB-related conditions. ClinVar contains an entry for this variant (Variation ID: 1195925). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV003382626 SCV004088924 uncertain significance Inborn genetic diseases 2023-09-13 criteria provided, single submitter clinical testing The c.854G>A (p.R285Q) alteration is located in exon 8 (coding exon 8) of the BCKDHB gene. This alteration results from a G to A substitution at nucleotide position 854, causing the arginine (R) at amino acid position 285 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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