Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000790736 | SCV000231567 | pathogenic | not provided | 2013-08-25 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000179335 | SCV000792191 | likely pathogenic | Maple syrup urine disease | 2017-06-09 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000179335 | SCV001421710 | pathogenic | Maple syrup urine disease | 2023-09-23 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 220 of the BCKDHA protein (p.Ala220Val). This variant is present in population databases (rs375785084, gnomAD 0.006%). This missense change has been observed in individual(s) with maple syrup urine disease (PMID: 16786533, 18378174, 21844576, 26232051). ClinVar contains an entry for this variant (Variation ID: 93367). 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. For these reasons, this variant has been classified as Pathogenic. |
Genome- |
RCV000179335 | SCV002033417 | pathogenic | Maple syrup urine disease | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000179335 | SCV002810557 | likely pathogenic | Maple syrup urine disease | 2021-11-12 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000179335 | SCV004215922 | pathogenic | Maple syrup urine disease | 2023-02-09 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001831820 | SCV002088152 | pathogenic | Maple syrup urine disease type 1A | 2020-12-04 | no assertion criteria provided | clinical testing |