ClinVar Miner

Submissions for variant NM_000098.3(CPT2):c.1774_1775del (p.Leu592fs)

gnomAD frequency: 0.00001  dbSNP: rs767004984
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409282 SCV000487506 likely pathogenic Carnitine palmitoyl transferase II deficiency, myopathic form 2016-02-12 criteria provided, single submitter clinical testing
Counsyl RCV000410414 SCV000487507 likely pathogenic Carnitine palmitoyl transferase II deficiency, severe infantile form 2016-02-12 criteria provided, single submitter clinical testing
Counsyl RCV000411459 SCV000487508 likely pathogenic Carnitine palmitoyl transferase II deficiency, neonatal form 2016-02-12 criteria provided, single submitter clinical testing
Invitae RCV003741177 SCV004561693 pathogenic Carnitine palmitoyltransferase II deficiency 2023-09-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu592Glufs*16) in the CPT2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 67 amino acid(s) of the CPT2 protein. This variant is present in population databases (rs767004984, gnomAD 0.007%). 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: 371705). This variant disrupts a region of the CPT2 protein in which other variant(s) (p.Glu645Argfs*5) have been determined to be pathogenic (PMID: 17936304, 21913903). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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