Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Eurofins Ntd Llc |
RCV000082725 | SCV000114769 | uncertain significance | not provided | 2013-09-04 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV000811483 | SCV000951751 | pathogenic | Maple syrup urine disease | 2022-06-30 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 96568). This missense change has been observed in individual(s) with maple syrup urine disease (Invitae). This variant is present in population databases (rs398124565, gnomAD 0.009%). This sequence change replaces tyrosine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 363 of the BCKDHB protein (p.Tyr363Asn). |
| Genome- |
RCV000811483 | SCV002033126 | uncertain significance | Maple syrup urine disease | 2021-11-07 | criteria provided, single submitter | clinical testing | |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV004700397 | SCV005202693 | uncertain significance | not specified | 2024-07-10 | criteria provided, single submitter | clinical testing | Variant summary: BCKDHB c.1087T>A (p.Tyr363Asn) results in a non-conservative amino acid change located in the Transketolase, C-terminal domain (IPR033248) of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 1.6e-05 in 251334 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.1087T>A has been reported in the literature in at least one individual affected with an unspecified inborn error of metabolism without reported genotype (e.g. Adhikari_2020). This report does not provide unequivocal conclusions about association of the variant with Maple Syrup Urine Disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication has been ascertained in the context of this evaluation (PMID: 32778825). ClinVar contains an entry for this variant (Variation ID: 96568). Based on the evidence outlined above, the variant was classified as uncertain significance. |