Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000009632 | SCV001574189 | likely pathogenic | Carnitine palmitoyl transferase 1A deficiency | 2021-12-23 | criteria provided, single submitter | clinical testing | In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Experimental studies have shown that this missense change affects CPT1A function (PMID: 14517221). 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: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 9065). This missense change has been observed in individual(s) with carnitine palmitoyltransferase 1A deficiency (PMID: 12189492). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 414 of the CPT1A protein (p.Ala414Val). |
OMIM | RCV000009632 | SCV000029850 | pathogenic | Carnitine palmitoyl transferase 1A deficiency | 2003-12-12 | no assertion criteria provided | literature only | |
Gene |
RCV000009632 | SCV000086851 | not provided | Carnitine palmitoyl transferase 1A deficiency | no assertion provided | literature only |