Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000207408 | SCV003443178 | pathogenic | Glutaric aciduria, type 1 | 2023-12-12 | criteria provided, single submitter | clinical testing | This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 344 of the GCDH protein (p.Thr344Ile). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with GCDH-related conditions (PMID: 34504725). ClinVar contains an entry for this variant (Variation ID: 221907). 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 not expected to disrupt GCDH protein function with a negative predictive value of 80%. For these reasons, this variant has been classified as Pathogenic. |
National Institute of Mental Health and Neurosciences | RCV000207408 | SCV000262700 | likely pathogenic | Glutaric aciduria, type 1 | 2015-11-30 | no assertion criteria provided | research |