ClinVar Miner

Submissions for variant NM_000709.4(BCKDHA):c.1280_1282del (p.Leu427_Ala428delinsPro)

dbSNP: rs755691417
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673920 SCV000799176 uncertain significance Maple syrup urine disease 2018-04-11 criteria provided, single submitter clinical testing
Invitae RCV000673920 SCV001230391 pathogenic Maple syrup urine disease 2022-09-20 criteria provided, single submitter clinical testing This variant, c.1280_1282del, is a complex sequence change that results in the deletion of 2 and insertion of 1 amino acid(s) in the BCKDHA protein (p.Leu427_Ala428delinsPro). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 557742). This variant has been observed in individual(s) with maple syrup urine disease (PMID: 21844576, 31980395; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is present in population databases (rs755691417, gnomAD 0.006%).
Genome-Nilou Lab RCV000673920 SCV002032996 likely pathogenic Maple syrup urine disease 2021-11-07 criteria provided, single submitter clinical testing

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