Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000669008 | SCV000793702 | likely pathogenic | Maple syrup urine disease | 2017-08-30 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000669008 | SCV001482144 | pathogenic | Maple syrup urine disease | 2021-02-09 | criteria provided, single submitter | clinical testing | Variant summary: BCKDHB c.633+1G>T is located in a canonical splice-site and is predicted to affect mRNA splicing resulting in a significantly altered protein due to either exon skipping, shortening, or inclusion of intronic material. Several computational tools predict a significant impact on normal splicing: Four predict the variant abolishes the canonical 5' splicing donor site. At least one publication reports experimental evidence that this variant affects mRNA splicing (Hayashida_1994). The variant was absent in 251150 control chromosomes. c.633+1G>T has been reported in the literature in homozygosity in at-least one individual affected with Maple Syrup Urine Disease (Hayashida_1994). These data indicate that the variant is associated with disease. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 and classified the variant as likely pathogenic citing overlapping evidence utilized in the context of this evaluation. Based on the evidence outlined above, the variant was classified as pathogenic. |
Genome- |
RCV000669008 | SCV002033153 | pathogenic | Maple syrup urine disease | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001829852 | SCV002079872 | pathogenic | Maple syrup urine disease type 1B | 2020-09-03 | no assertion criteria provided | clinical testing |