ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.2071C>T (p.Gln691Ter)

dbSNP: rs765161206
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409477 SCV000485331 likely pathogenic Carnitine palmitoyl transferase 1A deficiency 2015-11-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000409477 SCV002202918 pathogenic Carnitine palmitoyl transferase 1A deficiency 2023-09-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln691*) 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: 370101). For these reasons, this variant has been classified as Pathogenic.

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