Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000814512 | SCV000954925 | pathogenic | Carnitine palmitoyl transferase 1A deficiency | 2023-03-18 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 657820). This variant has not been reported in the literature in individuals affected with CPT1A-related conditions. This variant is present in population databases (rs773153659, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Arg598*) in the CPT1A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CPT1A are known to be pathogenic (PMID: 16169268). |
| Ambry Genetics | RCV002534842 | SCV003602016 | pathogenic | Inborn genetic diseases | 2022-02-09 | criteria provided, single submitter | clinical testing | The c.1792C>T (p.R598*) alteration, located in exon 15 (coding exon 14) of the CPT1A gene, consists of a C to T substitution at nucleotide position 1792. This changes the amino acid from an arginine (R) to a stop codon at amino acid position 598. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. Based on data from gnomAD, the T allele has an overall frequency of 0.001% (3/282690) total alleles studied. The highest observed frequency was 0.002% (3/129122) of European (non-Finnish) alleles. Based on the available evidence, this alteration is classified as pathogenic. |
| Baylor Genetics | RCV000814512 | SCV004216815 | likely pathogenic | Carnitine palmitoyl transferase 1A deficiency | 2023-10-07 | criteria provided, single submitter | clinical testing |