ClinVar Miner

Submissions for variant NM_183050.4(BCKDHB):c.633+1G>T

dbSNP: rs398124589
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Total submissions: 4
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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, LabCorp 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-Nilou Lab RCV000669008 SCV002033153 pathogenic Maple syrup urine disease 2021-11-07 criteria provided, single submitter clinical testing
Natera, Inc. RCV001829852 SCV002079872 pathogenic Maple syrup urine disease type 1B 2020-09-03 no assertion criteria provided clinical testing

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