ClinVar Miner

Submissions for variant NM_000709.4(BCKDHA):c.484+1G>A

dbSNP: rs2122122667
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
National Newborn Screening Laboratory, Hospital Nacional de Niños RCV001837053 SCV002097376 likely pathogenic Maple syrup urine disease criteria provided, single submitter clinical testing This variant is located within the ±2 bp from a splice site in the BCKDHA gene, where loss of function is a known disease mechanism. This variant is not present in population databases (gnomAD). It was found in a homozygous state in a patient with biochemical analysis supporting the diagnosis of MSUD (Pre-treatment plasma aminogram: Leucine: 1667umol/L, Valine: 522umol/L, Isoleucine: 454umol/L).

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