ClinVar Miner

Submissions for variant NM_014225.6(PPP2R1A):c.78+7A>C

gnomAD frequency: 0.00001  dbSNP: rs1240197556
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Total submissions: 2
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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 RCV002223047 SCV002500634 uncertain significance not specified 2022-03-24 criteria provided, single submitter clinical testing Variant summary: PPP2R1A c.78+7A>C alters a nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. 4/4 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant was absent in 183772 control chromosomes (gnomAD). 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.78+7A>C in individuals affected with Mental Retardation, Autosomal Dominant 36 and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV003698882 SCV004472649 likely benign not provided 2023-07-24 criteria provided, single submitter clinical testing

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