ClinVar Miner

Submissions for variant NM_000098.3(CPT2):c.852del (p.Glu285fs) (rs1057517729)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000413363 SCV000490509 pathogenic not provided 2018-05-31 criteria provided, single submitter clinical testing The c.852delC variant in the CPT2 gene causes a frameshift starting with codon Glutamic Acid 285, changes this amino acid to a Serine residue and creates a premature Stop codon at position 7 of the new reading frame, denoted p.Glu285SerfsX7. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Although this variant has not been previously reported to our knowledge, it is expected to be a pathogenic variant.
Invitae RCV001218021 SCV001389888 pathogenic Carnitine palmitoyltransferase II deficiency 2020-05-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu285Serfs*7) in the CPT2 gene. It is expected to result in an absent or disrupted protein product. 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: 372351). Loss-of-function variants in CPT2 are known to be pathogenic (PMID: 16781677, 16996287). For these reasons, this variant has been classified as Pathogenic.
Counsyl RCV000984251 SCV001132374 likely pathogenic Carnitine palmitoyltransferase II deficiency, infantile 2015-04-16 no assertion criteria provided clinical testing

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