Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000790812 | SCV000230181 | pathogenic | not provided | 2013-09-10 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000009630 | SCV000797175 | likely pathogenic | Carnitine palmitoyl transferase 1A deficiency | 2018-01-16 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000009630 | SCV002240301 | pathogenic | Carnitine palmitoyl transferase 1A deficiency | 2023-11-19 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln100*) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with carnitine palmitoyltransferase 1A deficiency (PMID: 12189492). ClinVar contains an entry for this variant (Variation ID: 9063). For these reasons, this variant has been classified as Pathogenic. |
OMIM | RCV000009630 | SCV000029848 | pathogenic | Carnitine palmitoyl transferase 1A deficiency | 2002-08-01 | no assertion criteria provided | literature only | |
Gene |
RCV000009630 | SCV000086868 | not provided | Carnitine palmitoyl transferase 1A deficiency | no assertion provided | literature only |