ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.1997_1998insAAAA (p.Tyr666Ter)

dbSNP: rs1057516800
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409196 SCV000486241 likely pathogenic Carnitine palmitoyl transferase 1A deficiency 2016-04-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000409196 SCV002150813 pathogenic Carnitine palmitoyl transferase 1A deficiency 2021-09-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr666*) 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 (ExAC 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: 370829). For these reasons, this variant has been classified as Pathogenic.

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