Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000697594 | SCV000826214 | uncertain significance | Carnitine palmitoyl transferase 1A deficiency | 2022-10-17 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 284 of the CPT1A protein (p.Arg284His). This variant is present in population databases (rs144866081, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with CPT1A-related conditions. ClinVar contains an entry for this variant (Variation ID: 575393). 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. 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. |
Eurofins Ntd Llc |
RCV000732851 | SCV000860846 | uncertain significance | not provided | 2018-04-09 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000732851 | SCV001812783 | uncertain significance | not provided | 2021-05-25 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 29429925) |
Fulgent Genetics, |
RCV000697594 | SCV002816955 | uncertain significance | Carnitine palmitoyl transferase 1A deficiency | 2021-07-23 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000697594 | SCV003829954 | uncertain significance | Carnitine palmitoyl transferase 1A deficiency | 2021-11-30 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV000697594 | SCV001457996 | uncertain significance | Carnitine palmitoyl transferase 1A deficiency | 2020-04-16 | no assertion criteria provided | clinical testing |