ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.222C>A (p.Tyr74Ter) (rs398123654)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000790814 SCV000228971 pathogenic not provided 2013-06-05 criteria provided, single submitter clinical testing
Counsyl RCV000177140 SCV000799016 likely pathogenic Carnitine palmitoyltransferase I deficiency 2018-04-04 criteria provided, single submitter clinical testing
Invitae RCV000793676 SCV000933040 pathogenic Carnitine palmitoyl transferase 1 deficiency 2018-10-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr74*) in the CPT1A gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with CPT1A-related disease. ClinVar contains an entry for this variant (Variation ID: 93972). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. Loss-of-function variants in CPT1A are known to be pathogenic (PMID: 16169268). For these reasons, this variant has been classified as Pathogenic.

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