ClinVar Miner

Submissions for variant NM_000098.3(CPT2):c.627_630dup (p.Pro211fs)

dbSNP: rs1553169629
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669596 SCV000794365 likely pathogenic Carnitine palmitoyl transferase II deficiency, severe infantile form 2017-10-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002531231 SCV003330478 pathogenic Carnitine palmitoyltransferase II deficiency 2022-03-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Pro211Valfs*24) in the CPT2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CPT2 are known to be pathogenic (PMID: 16781677, 16996287). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 554042). 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).
Genome-Nilou Lab RCV000669596 SCV004179385 likely pathogenic Carnitine palmitoyl transferase II deficiency, severe infantile form 2023-04-11 criteria provided, single submitter clinical testing
Baylor Genetics RCV004568527 SCV005058525 likely pathogenic Encephalopathy, acute, infection-induced, susceptibility to, 4 2024-02-27 criteria provided, single submitter clinical testing

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