ClinVar Miner

Submissions for variant NM_000098.3(CPT2):c.1666_1667del (p.Leu556fs)

gnomAD frequency: 0.00001  dbSNP: rs1557719455
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000809583 SCV000949739 pathogenic Carnitine palmitoyltransferase II deficiency 2024-01-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu556Valfs*16) in the CPT2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 103 amino acid(s) of the CPT2 protein. This variant is present in population databases (no rsID available, gnomAD 0.002%). This premature translational stop signal has been observed in individuals with carnitine palmitoyltransferase II deficiency (PMID: 28871440, 29478820). ClinVar contains an entry for this variant (Variation ID: 653761). This variant disrupts a region of the CPT2 protein in which other variant(s) (p.Glu645Argfs*5) have been determined to be pathogenic (PMID: 17936304, 21913903). 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.
CeGaT Center for Human Genetics Tuebingen RCV001092684 SCV001249309 pathogenic not provided 2019-10-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002507406 SCV002809581 pathogenic 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 2022-04-14 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001092684 SCV003819317 pathogenic not provided 2022-05-20 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003453694 SCV004178282 pathogenic Carnitine palmitoyl transferase II deficiency, severe infantile form 2023-04-11 criteria provided, single submitter clinical testing
Baylor Genetics RCV003472405 SCV004211067 pathogenic Encephalopathy, acute, infection-induced, susceptibility to, 4 2024-01-24 criteria provided, single submitter clinical testing
Natera, Inc. RCV000809583 SCV002092673 pathogenic Carnitine palmitoyltransferase II deficiency 2020-12-28 no assertion criteria provided clinical testing

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