ClinVar Miner

Submissions for variant NM_183050.4(BCKDHB):c.569G>C (p.Gly190Ala)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003067476 SCV003457388 uncertain significance Maple syrup urine disease 2022-06-04 criteria provided, single submitter clinical testing This variant is present in population databases (no rsID available, gnomAD no frequency). 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. 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 disruptive. This variant has not been reported in the literature in individuals affected with BCKDHB-related conditions. This sequence change replaces glycine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 190 of the BCKDHB protein (p.Gly190Ala).

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