ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.589G>T (p.Glu197Ter)

gnomAD frequency: 0.00001  dbSNP: rs1211665230
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001955535 SCV002226620 pathogenic Carnitine palmitoyl transferase 1A deficiency 2023-11-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu197*) in the CPT1A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CPT1A are known to be pathogenic (PMID: 16169268). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with CPT1A-related conditions. ClinVar contains an entry for this variant (Variation ID: 1443299). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV001955535 SCV004216814 likely pathogenic Carnitine palmitoyl transferase 1A deficiency 2023-10-10 criteria provided, single submitter clinical testing

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