ClinVar Miner

Submissions for variant NM_000709.4(BCKDHA):c.1277C>T (p.Ser426Phe)

gnomAD frequency: 0.00005  dbSNP: rs557058340
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000180525 SCV000232987 uncertain significance not provided 2015-04-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002478600 SCV002792519 uncertain significance Maple syrup urine disease 2021-09-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002478600 SCV003449978 uncertain significance Maple syrup urine disease 2020-12-01 criteria provided, single submitter clinical testing This sequence change replaces serine with phenylalanine at codon 426 of the BCKDHA protein (p.Ser426Phe). The serine residue is moderately conserved and there is a large physicochemical difference between serine and phenylalanine. This variant is present in population databases (rs557058340, ExAC 0.02%). This variant has not been reported in the literature in individuals with BCKDHA-related conditions. ClinVar contains an entry for this variant (Variation ID: 199035). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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.

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