ClinVar Miner

Submissions for variant NM_000098.3(CPT2):c.520G>T (p.Glu174Ter)

dbSNP: rs28936674
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665286 SCV000789379 likely pathogenic Carnitine palmitoyl transferase II deficiency, severe infantile form 2017-01-26 criteria provided, single submitter clinical testing
Invitae RCV002530652 SCV003273334 pathogenic Carnitine palmitoyltransferase II deficiency 2021-12-27 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: 550520). This variant has not been reported in the literature in individuals affected with CPT2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu174*) 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).
Genome-Nilou Lab RCV000665286 SCV004179351 likely pathogenic Carnitine palmitoyl transferase II deficiency, severe infantile form 2023-04-11 criteria provided, single submitter clinical testing

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