Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Eurofins Ntd Llc |
RCV000790710 | SCV000224711 | pathogenic | not provided | 2013-11-25 | criteria provided, single submitter | clinical testing | |
| Illumina Laboratory Services, |
RCV000173587 | SCV000916166 | uncertain significance | Maple syrup urine disease | 2018-11-20 | criteria provided, single submitter | clinical testing | The BCKDHB c.33_34delAC (p.Leu12GlnfsTer8) variant results in a frameshift and is predicted to result in premature termination of the protein. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. The p.Leu12GlnfsTer8 variant is reported at a frequency of 0.000019 in the European (non-Finnish) population of the Genome Aggregation Database though this is based on one allele in a region of good sequence coverage so the variant is presumed to be rare. Based on the variant frequency, disease prevalence, disease penetrance, and inheritance mode, this variant could not be ruled out of causing disease. Due to the potential impact of frameshift variants and the lack of clarifying evidence, this variant is classified as a variant of unknown significance but suspicious for pathogenicity for maple syrup urine disease. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population. |
| Invitae | RCV000173587 | SCV001228478 | pathogenic | Maple syrup urine disease | 2023-11-22 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Leu12Glnfs*8) in the BCKDHB gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BCKDHB are known to be pathogenic (PMID: 16786533, 22593002). This variant is present in population databases (rs398124572, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with BCKDHB-related conditions. ClinVar contains an entry for this variant (Variation ID: 96578). For these reasons, this variant has been classified as Pathogenic. |
| Genome- |
RCV000173587 | SCV002033018 | likely pathogenic | Maple syrup urine disease | 2021-11-07 | criteria provided, single submitter | clinical testing | |
| Baylor Genetics | RCV000173587 | SCV004215986 | pathogenic | Maple syrup urine disease | 2023-04-29 | criteria provided, single submitter | clinical testing |