Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory of Molecular Genetics |
RCV001171578 | SCV001334371 | likely pathogenic | not provided | 2019-05-17 | criteria provided, single submitter | clinical testing | |
Centre for Mendelian Genomics, |
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, |
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, |
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. |