ClinVar Miner

Submissions for variant NM_000098.3(CPT2):c.213_214del (p.Leu72fs)

dbSNP: rs751253358
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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 RCV001965016 SCV002212959 pathogenic Carnitine palmitoyltransferase II deficiency 2022-06-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu72Glufs*2) 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 (rs751253358, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with CPT2-related conditions. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003475190 SCV004211078 likely pathogenic Encephalopathy, acute, infection-induced, susceptibility to, 4 2023-05-31 criteria provided, single submitter clinical testing

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