ClinVar Miner

Submissions for variant NM_000098.3(CPT2):c.1437C>G (p.Tyr479Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002663229 SCV002984392 pathogenic Carnitine palmitoyltransferase II deficiency 2023-04-21 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: 1944741). This variant has not been reported in the literature in individuals affected with CPT2-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.01%). This sequence change creates a premature translational stop signal (p.Tyr479*) in the CPT2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CPT2 are known to be pathogenic (PMID: 16781677, 16996287).
Baylor Genetics RCV003475410 SCV004211080 likely pathogenic Encephalopathy, acute, infection-induced, susceptibility to, 4 2023-05-22 criteria provided, single submitter clinical testing

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