Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001563504 | SCV001786460 | likely pathogenic | not provided | 2021-01-16 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function |
Genome- |
RCV001563776 | SCV001786803 | uncertain significance | Carnitine palmitoyl transferase 1A deficiency | 2021-07-14 | criteria provided, single submitter | clinical testing | |
Institute of Human Genetics, |
RCV001563776 | SCV002496115 | likely pathogenic | Carnitine palmitoyl transferase 1A deficiency | 2020-05-14 | criteria provided, single submitter | clinical testing | ACMG categories: PS5,PM1,PM2,PP4 |
Invitae | RCV001563776 | SCV003298157 | uncertain significance | Carnitine palmitoyl transferase 1A deficiency | 2024-01-26 | criteria provided, single submitter | clinical testing | This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 106 of the CPT1A protein (p.Ser106Asn). This variant is present in population databases (rs766819782, gnomAD 0.005%). This missense change has been observed in individual(s) with carnitine palmitoyltransferase 1A deficiency (Invitae). ClinVar contains an entry for this variant (Variation ID: 1199121). 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 CPT1A protein function with a negative predictive value of 95%. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
Ce |
RCV001563504 | SCV004137115 | uncertain significance | not provided | 2023-10-01 | criteria provided, single submitter | clinical testing | CPT1A: PM2, PP4:Moderate, PM3:Supporting |