ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.2142+6T>C

dbSNP: rs777779540
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001317845 SCV001508523 uncertain significance Carnitine palmitoyl transferase 1A deficiency 2022-03-12 criteria provided, single submitter clinical testing This sequence change falls in intron 17 of the CPT1A gene. It does not directly change the encoded amino acid sequence of the CPT1A protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs777779540, gnomAD 0.003%). 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: 1018533). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003235548 SCV003934804 uncertain significance not specified 2023-05-05 criteria provided, single submitter clinical testing
Natera, Inc. RCV001317845 SCV002092940 uncertain significance Carnitine palmitoyl transferase 1A deficiency 2020-12-03 no assertion criteria provided clinical testing

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