ClinVar Miner

Submissions for variant NM_014225.6(PPP2R1A):c.655T>C (p.Ser219Pro)

dbSNP: rs2089686081
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes RCV001171578 SCV001334371 likely pathogenic not provided 2019-05-17 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001197926 SCV001368710 uncertain significance Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome 2019-04-17 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence favors the pathogenic nature of this variant, however the currently available data is insufficient to conclusively support its pathogenic nature. Thus this variant is classified as Uncertain significance - favor pathogenic. The following ACMG criteria were applied in classifying this variant: PM2,PM6,PP3.
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli RCV001420257 SCV001622677 likely pathogenic See cases 2021-04-26 criteria provided, single submitter clinical testing PM1_moderate;PM2_supporting;PM6_moderate;PP2_supporting;PP3_supporting
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003230639 SCV003928389 uncertain significance not specified 2023-04-14 criteria provided, single submitter clinical testing Variant summary: PPP2R1A c.655T>C (p.Ser219Pro) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 230734 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.655T>C in individuals affected with Mental Retardation, Autosomal Dominant 36 and no experimental evidence demonstrating its impact on protein function have been reported. Three submitters have provided clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation and classified the variant as either likely pathogenic (n=2) or VUS (n=1). Based on the evidence outlined above, the variant was classified as uncertain significance.

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