ClinVar Miner

Submissions for variant NM_000098.3(CPT2):c.896_906dup (p.Arg303fs)

gnomAD frequency: 0.00001  dbSNP: rs766004699
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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 RCV001983055 SCV002244597 pathogenic Carnitine palmitoyltransferase II deficiency 2021-10-14 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with CPT2-related conditions. This sequence change creates a premature translational stop signal (p.Arg303Glyfs*8) 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). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003475259 SCV004211070 likely pathogenic Encephalopathy, acute, infection-induced, susceptibility to, 4 2023-06-24 criteria provided, single submitter clinical testing

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