ClinVar Miner

Submissions for variant NM_000098.3(CPT2):c.1414C>T (p.Gln472Ter)

gnomAD frequency: 0.00002  dbSNP: rs754386565
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000410758 SCV000487639 likely pathogenic Carnitine palmitoyl transferase II deficiency, myopathic form 2016-06-21 criteria provided, single submitter clinical testing
Counsyl RCV000411774 SCV000487640 likely pathogenic Carnitine palmitoyl transferase II deficiency, severe infantile form 2016-06-21 criteria provided, single submitter clinical testing
Counsyl RCV000409790 SCV000487641 likely pathogenic Carnitine palmitoyl transferase II deficiency, neonatal form 2016-06-21 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000762945 SCV000893368 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 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV002524627 SCV003484914 pathogenic Carnitine palmitoyltransferase II deficiency 2023-08-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln472*) 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). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 371750). This premature translational stop signal has been observed in individual(s) with clinical features of CPT2-related conditions (Invitae). This variant is present in population databases (rs754386565, gnomAD 0.02%).
Genome-Nilou Lab RCV000411774 SCV004179529 likely pathogenic Carnitine palmitoyl transferase II deficiency, severe infantile form 2023-04-11 criteria provided, single submitter clinical testing
Baylor Genetics RCV003475986 SCV004211036 likely pathogenic Encephalopathy, acute, infection-induced, susceptibility to, 4 2023-10-11 criteria provided, single submitter clinical testing

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