Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000009633 | SCV000800495 | uncertain significance | Carnitine palmitoyl transferase 1A deficiency | 2017-02-10 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000009633 | SCV002287700 | likely pathogenic | Carnitine palmitoyl transferase 1A deficiency | 2021-04-02 | 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. This variant disrupts the p.Tyr498 amino acid residue in CPT1A. Other variant(s) that disrupt this residue have been observed in individuals with CPT1A-related conditions (PMID: 21962599), which suggests that this may be a clinically significant amino acid residue. Experimental studies have shown that this variant affects CPT1A protein function (PMID: 14517221). This variant has been observed in individual(s) with CPT1 deficiency (PMID: 12189492). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 9066). This variant is present in population databases (rs80356791, ExAC 0.006%). This sequence change replaces tyrosine with cysteine at codon 498 of the CPT1A protein (p.Tyr498Cys). The tyrosine residue is highly conserved and there is a large physicochemical difference between tyrosine and cysteine. |
OMIM | RCV000009633 | SCV000029851 | pathogenic | Carnitine palmitoyl transferase 1A deficiency | 2003-12-12 | no assertion criteria provided | literature only | |
Gene |
RCV000009633 | SCV000086858 | not provided | Carnitine palmitoyl transferase 1A deficiency | no assertion provided | literature only |