ClinVar Miner

Submissions for variant NM_001199753.2(CPT1C):c.879G>T (p.Pro293=)

dbSNP: rs1049933458
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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 RCV001057192 SCV001221672 uncertain significance Hereditary spastic paraplegia 73 2019-05-30 criteria provided, single submitter clinical testing 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 disrupt the consensus 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 CPT1C-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change affects codon 282 of the CPT1C mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the CPT1C protein. This variant also falls at the last nucleotide of exon 9 of the CPT1C coding sequence, which is part of the consensus splice site for this exon. 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.

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