Total submissions: 9
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Eurofins Ntd Llc |
RCV000724580 | SCV000232088 | pathogenic | not provided | 2015-01-28 | criteria provided, single submitter | clinical testing | |
| Counsyl | RCV000179782 | SCV000797721 | pathogenic | Maple syrup urine disease | 2018-02-07 | criteria provided, single submitter | clinical testing | |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV000002474 | SCV000918641 | pathogenic | Maple syrup urine disease type 1A | 2020-09-28 | criteria provided, single submitter | clinical testing | Variant summary: BCKDHA c.861_868delAGGCCCCG (p.Gly288ValfsX11) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant was absent in 251376 control chromosomes. c.861_868delAGGCCCCG has been reported in the literature in individuals affected with Maple Syrup Urine Disease Type 1A and has been subsequently cited by others (example, Stojiljkovic_2016, Chuang_1994, Bell_2011, Brunetti-Pierri_2011, Hallam_2014, Umbarger_2012, Chinsky_1998, Imperlini_2016). These data indicate that the variant may be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Two clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as pathogenic citing overlapping evidence utilized in the context of this evaluation. Based on the evidence outlined above, the variant was classified as pathogenic. |
| Genome- |
RCV000179782 | SCV002033473 | pathogenic | Maple syrup urine disease | 2021-11-07 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV000179782 | SCV002176686 | pathogenic | Maple syrup urine disease | 2023-11-13 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gly288Valfs*11) in the BCKDHA gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BCKDHA are known to be pathogenic (PMID: 16786533, 22593002). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with maple syrup urine disease (PMID: 8037208, 26830710). This variant is also known as 8-bp deletion in exon 7. ClinVar contains an entry for this variant (Variation ID: 198433). For these reasons, this variant has been classified as Pathogenic. |
| Fulgent Genetics, |
RCV000179782 | SCV002789129 | pathogenic | Maple syrup urine disease | 2021-11-19 | criteria provided, single submitter | clinical testing | |
| Baylor Genetics | RCV000002474 | SCV005058086 | pathogenic | Maple syrup urine disease type 1A | 2024-02-12 | criteria provided, single submitter | clinical testing | |
| OMIM | RCV000179782 | SCV000022632 | pathogenic | Maple syrup urine disease | 1994-08-01 | no assertion criteria provided | literature only | |
| Natera, |
RCV000002474 | SCV002088158 | pathogenic | Maple syrup urine disease type 1A | 2021-02-09 | no assertion criteria provided | clinical testing |