ClinVar Miner

Submissions for variant NM_000098.3(CPT2):c.75del (p.Ser26fs)

gnomAD frequency: 0.00001  dbSNP: rs1057517493
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000412215 SCV000487580 likely pathogenic Carnitine palmitoyl transferase II deficiency, myopathic form 2016-04-28 criteria provided, single submitter clinical testing
Counsyl RCV000409757 SCV000487581 likely pathogenic Carnitine palmitoyl transferase II deficiency, severe infantile form 2016-04-28 criteria provided, single submitter clinical testing
Counsyl RCV000410873 SCV000487582 likely pathogenic Carnitine palmitoyl transferase II deficiency, neonatal form 2016-04-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001861402 SCV002240190 pathogenic Carnitine palmitoyltransferase II deficiency 2024-11-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser26Alafs*47) 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 (no rsID available, gnomAD 0.01%). 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: 371730). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV002481265 SCV002799005 likely pathogenic Carnitine palmitoyl transferase II deficiency, severe infantile form; Carnitine palmitoyl transferase II deficiency, myopathic form; Carnitine palmitoyl transferase II deficiency, neonatal form; Encephalopathy, acute, infection-induced, susceptibility to, 4 2024-04-26 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000409757 SCV004179247 likely pathogenic Carnitine palmitoyl transferase II deficiency, severe infantile form 2023-04-11 criteria provided, single submitter clinical testing
Baylor Genetics RCV004567893 SCV005058529 likely pathogenic Encephalopathy, acute, infection-induced, susceptibility to, 4 2024-02-19 criteria provided, single submitter clinical testing

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