ClinVar Miner

Submissions for variant NM_000098.3(CPT2):c.670del (p.Thr224fs)

dbSNP: rs762366252
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666078 SCV000790317 likely pathogenic Carnitine palmitoyl transferase II deficiency, severe infantile form 2017-03-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001861748 SCV002125123 pathogenic Carnitine palmitoyltransferase II deficiency 2023-11-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr224Leufs*23) 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). This variant is present in population databases (rs762366252, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with CPT2-related conditions. ClinVar contains an entry for this variant (Variation ID: 551107). For these reasons, this variant has been classified as Pathogenic.
Genome-Nilou Lab RCV000666078 SCV004179391 likely pathogenic Carnitine palmitoyl transferase II deficiency, severe infantile form 2023-04-11 criteria provided, single submitter clinical testing
Baylor Genetics RCV003472075 SCV004211060 likely pathogenic Encephalopathy, acute, infection-induced, susceptibility to, 4 2023-11-17 criteria provided, single submitter clinical testing

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