Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000723829 | SCV000226603 | pathogenic | not provided | 2014-07-14 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000009638 | SCV000486325 | likely pathogenic | Carnitine palmitoyl transferase 1A deficiency | 2016-05-09 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000009638 | SCV004270238 | pathogenic | Carnitine palmitoyl transferase 1A deficiency | 2023-04-17 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. Experimental studies have shown that this missense change affects CPT1A function (PMID: 11350182). 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 CPT1A protein function. ClinVar contains an entry for this variant (Variation ID: 9071). This missense change has been observed in individual(s) with carnitine palmitoyltransferase 1A deficiency (PMID: 11350183). It has also been observed to segregate with disease in related individuals. This variant is present in population databases (rs80356780, gnomAD 0.006%). This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 710 of the CPT1A protein (p.Gly710Glu). |
OMIM | RCV000009638 | SCV000029856 | pathogenic | Carnitine palmitoyl transferase 1A deficiency | 2001-05-01 | no assertion criteria provided | literature only | |
Gene |
RCV000009638 | SCV000086866 | not provided | Carnitine palmitoyl transferase 1A deficiency | no assertion provided | literature only |