Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000790719 | SCV000232085 | likely pathogenic | not provided | 2013-09-05 | criteria provided, single submitter | clinical testing | |
Institute of Medical Genetics and Genomics, |
RCV000179779 | SCV000240046 | pathogenic | Maple syrup urine disease | 2012-01-01 | criteria provided, single submitter | research | |
Counsyl | RCV000179779 | SCV000789537 | likely pathogenic | Maple syrup urine disease | 2017-02-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000179779 | SCV001235159 | pathogenic | Maple syrup urine disease | 2024-01-29 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 327 of the BCKDHA protein (p.Glu327Lys). This variant is present in population databases (rs398123515, gnomAD 0.006%). This missense change has been observed in individual(s) with biochemical or clinical diagnosis of maple syrup urine disease (PMID: 11825067, 16786533, 26257134). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 93385). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt BCKDHA protein function with a positive predictive value of 95%. For these reasons, this variant has been classified as Pathogenic. |
Genome- |
RCV000179779 | SCV002033517 | pathogenic | Maple syrup urine disease | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000790719 | SCV002759236 | uncertain significance | not provided | 2022-11-26 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 16786533, 31980395, 11825067, 26257134) |
Baylor Genetics | RCV000179779 | SCV004215882 | pathogenic | Maple syrup urine disease | 2023-09-01 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001275918 | SCV001461597 | pathogenic | Maple syrup urine disease type 1A | 2020-09-16 | no assertion criteria provided | clinical testing |