Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Baylor Genetics | RCV003460460 | SCV004215999 | likely pathogenic | Maple syrup urine disease | 2022-12-20 | criteria provided, single submitter | clinical testing | |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV003460460 | SCV005395130 | likely pathogenic | Maple syrup urine disease | 2024-09-10 | criteria provided, single submitter | clinical testing | Variant summary: BCKDHB c.616C>T (p.His206Tyr) results in a conservative amino acid change located in the Transketolase-like, pyrimidine-binding domain of the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 4e-06 in 251284 control chromosomes. c.616C>T has been reported in the literature in at-least one individual affected with Maple Syrup Urine Disease (example:Chuang_2004). These data indicate that the variant may be associated with disease. At least one publication reports experimental evidence that this variant (listed as H156Y) was poorly expressed and does not produce BCKD activity in the presence of normal E2 and E3 (example:Chuang_2004). The following publication has been ascertained in the context of this evaluation (PMID: 14742428). ClinVar contains an entry for this variant (Variation ID: 11938). Based on the evidence outlined above, the variant was classified as likely pathogenic. |
| OMIM | RCV003534309 | SCV000032951 | pathogenic | Maple syrup urine disease type 1B | 2004-04-23 | no assertion criteria provided | literature only |