ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.2018_2022del (p.Pro672_Phe673insTer)

dbSNP: rs1163935346
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001906586 SCV002174033 pathogenic Carnitine palmitoyl transferase 1A deficiency 2023-01-16 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1405623). This variant has not been reported in the literature in individuals affected with CPT1A-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Phe673*) 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).
Baylor Genetics RCV001906586 SCV004211004 likely pathogenic Carnitine palmitoyl transferase 1A deficiency 2023-04-07 criteria provided, single submitter clinical testing

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