ClinVar Miner

Submissions for variant NM_000098.3(CPT2):c.1867_1890del (p.Cys623_Gly630del)

dbSNP: rs1553170006
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668647 SCV000793281 uncertain significance Carnitine palmitoyl transferase II deficiency, severe infantile form 2017-08-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001229112 SCV001401548 pathogenic Carnitine palmitoyltransferase II deficiency 2023-07-17 criteria provided, single submitter clinical testing This variant, c.1867_1890del, results in the deletion of 8 amino acid(s) of the CPT2 protein (p.Cys623_Gly630del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). 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: 553242). This variant disrupts a region of the CPT2 protein in which other variant(s) (p.Tyr628Ser) have been determined to be pathogenic (PMID: 8651281, 10734268). 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.
Genome-Nilou Lab RCV003456123 SCV004178335 uncertain significance Encephalopathy, acute, infection-induced, susceptibility to, 4 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000668647 SCV004178336 uncertain significance Carnitine palmitoyl transferase II deficiency, severe infantile form 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003451682 SCV004178337 uncertain significance Carnitine palmitoyl transferase II deficiency, neonatal form 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003451681 SCV004178338 uncertain significance Carnitine palmitoyl transferase II deficiency, myopathic form 2023-04-11 criteria provided, single submitter clinical testing

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