ClinVar Miner

Submissions for variant NM_000098.3(CPT2):c.1608dup (p.Lys537fs)

dbSNP: rs1553169813
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669311 SCV000794053 likely pathogenic Carnitine palmitoyl transferase II deficiency, severe infantile form 2017-09-07 criteria provided, single submitter clinical testing
Invitae RCV001215229 SCV001386961 pathogenic Carnitine palmitoyltransferase II deficiency 2022-11-24 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the CPT2 protein in which other variant(s) (p.Pro595Glnfs*3) have been determined to be pathogenic (PMID: 8651281, 9600456, 18550408). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 553793). This variant has not been reported in the literature in individuals affected with CPT2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Lys537Glnfs*17) in the CPT2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 122 amino acid(s) of the CPT2 protein.
Genome-Nilou Lab RCV000669311 SCV004178277 likely pathogenic Carnitine palmitoyl transferase II deficiency, severe infantile form 2023-04-11 criteria provided, single submitter clinical testing

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