Total submissions: 3
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- |
RCV000673920 | SCV002032996 | likely pathogenic | Maple syrup urine disease | 2021-11-07 | criteria provided, single submitter | clinical testing |