ClinVar Miner

Submissions for variant NM_000098.3(CPT2):c.1608dup (p.Lys537fs) (rs1553169813)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669311 SCV000794053 likely pathogenic Carnitine palmitoyltransferase II deficiency, infantile 2017-09-07 criteria provided, single submitter clinical testing
Invitae RCV001215229 SCV001386961 pathogenic Carnitine palmitoyltransferase II deficiency 2020-03-03 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the CPT2 gene (p.Lys537Glnfs*17). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 122 amino acids of the CPT2 protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with CPT2-related conditions. ClinVar contains an entry for this variant (Variation ID: 553793). This variant disrupts the C-terminus of the CPT2 protein. Another variant that disrupts this region (p.Pro595Glnfs*3) have been determined to be pathogenic (PMID:18550408, 8651281, 9600456). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. For these reasons, this variant has been classified as Pathogenic.

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