ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.141+6C>G

dbSNP: rs1856354034
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001206097 SCV001377388 uncertain significance Carnitine palmitoyl transferase 1A deficiency 2019-09-18 criteria provided, single submitter clinical testing 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. Nucleotide substitutions within 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, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with CPT1A-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change falls in intron 2 of the CPT1A gene. It does not directly change the encoded amino acid sequence of the CPT1A protein, but it affects a nucleotide within the consensus splice site of the intron.

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