ClinVar Miner

Submissions for variant NM_000098.3(CPT2):c.1767del (p.Ser590fs)

dbSNP: rs1553169973
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673171 SCV000798345 likely pathogenic Carnitine palmitoyl transferase II deficiency, severe infantile form 2018-03-09 criteria provided, single submitter clinical testing
Invitae RCV001855592 SCV002234476 pathogenic Carnitine palmitoyltransferase II deficiency 2023-08-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser590Alafs*3) in the CPT2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 69 amino acid(s) of the CPT2 protein. 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: 557080). 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.
Genome-Nilou Lab RCV000673171 SCV004178296 likely pathogenic Carnitine palmitoyl transferase II deficiency, severe infantile form 2023-04-11 criteria provided, single submitter clinical testing

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