ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.2142G>A (p.Pro714=)

gnomAD frequency: 0.00081  dbSNP: rs150792109
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000429343 SCV000512761 likely benign not specified 2016-05-18 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000792417 SCV000931715 uncertain significance Carnitine palmitoyl transferase 1A deficiency 2022-10-17 criteria provided, single submitter clinical testing This sequence change affects codon 714 of the CPT1A mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the CPT1A protein. This variant also falls at the last nucleotide of exon 17, which is part of the consensus splice site for this exon. This variant is present in population databases (rs150792109, gnomAD 0.1%), and has an allele count higher than expected for a pathogenic variant. 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: 377755). 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.
PreventionGenetics, part of Exact Sciences RCV003970111 SCV004784507 likely benign CPT1A-related disorder 2020-03-09 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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