ClinVar Miner

Submissions for variant NM_000098.3(CPT2):c.38del (p.Gly13fs)

dbSNP: rs786204647
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169434 SCV000220850 likely pathogenic Carnitine palmitoyl transferase II deficiency, severe infantile form 2014-11-04 criteria provided, single submitter literature only
Invitae RCV002515200 SCV003523281 pathogenic Carnitine palmitoyltransferase II deficiency 2023-09-20 criteria provided, single submitter clinical testing This premature translational stop signal has been observed in individual(s) with carnitine palmitoyltransferase II deficiency (PMID: 16996287). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 189042). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gly13Alafs*60) 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).
Genome-Nilou Lab RCV000169434 SCV004178248 likely pathogenic Carnitine palmitoyl transferase II deficiency, severe infantile form 2023-04-11 criteria provided, single submitter clinical testing

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