ClinVar Miner

Submissions for variant NM_002715.4(PPP2CA):c.739-3C>A

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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 RCV002848105 SCV003225661 uncertain significance not provided 2022-08-19 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with PPP2CA-related conditions. This sequence change falls in intron 5 of the PPP2CA gene. It does not directly change the encoded amino acid sequence of the PPP2CA protein. It affects a nucleotide within the consensus splice site. This variant is not present in population databases (gnomAD no frequency). 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 is not likely to affect RNA splicing. 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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