Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000055852 | SCV002181176 | uncertain significance | Carnitine palmitoyl transferase 1A deficiency | 2021-12-21 | criteria provided, single submitter | clinical testing | This sequence change replaces phenylalanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 343 of the CPT1A protein (p.Phe343Val). This variant is present in population databases (rs80356783, gnomAD 0.009%). This missense change has been observed in individual(s) with carnitine palmitoyltransferase 1 deficiency (PMID: 15110323). ClinVar contains an entry for this variant (Variation ID: 65639). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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. |
Baylor Genetics | RCV000055852 | SCV004211021 | likely pathogenic | Carnitine palmitoyl transferase 1A deficiency | 2022-04-09 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000055852 | SCV000086848 | not provided | Carnitine palmitoyl transferase 1A deficiency | no assertion provided | literature only |