ClinVar Miner

Submissions for variant NM_000098.3(CPT2):c.1404G>A (p.Gln468=)

gnomAD frequency: 0.00002  dbSNP: rs140771069
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000920231 SCV001065591 benign Carnitine palmitoyltransferase II deficiency 2024-12-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005029533 SCV005649134 uncertain significance 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 2024-06-05 criteria provided, single submitter clinical testing
Natera, Inc. RCV000920231 SCV001454129 uncertain significance Carnitine palmitoyltransferase II deficiency 2020-01-17 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003960384 SCV004783519 likely benign CPT2-related disorder 2022-11-23 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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