ClinVar Miner

Submissions for variant NM_006218.4(PIK3CA):c.1059+8C>T

gnomAD frequency: 0.00002  dbSNP: rs199552207
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003404805 SCV004122223 uncertain significance not specified 2023-10-03 criteria provided, single submitter clinical testing Variant summary: PIK3CA c.1059+8C>T alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. Consensus agreement among computation tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 8.5e-06 in 234876 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.1059+8C>T in individuals affected with PIK3CA-Associated Segmental Overgrowth and no experimental evidence demonstrating its impact on protein function have been reported. No submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.

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