Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000437046 | SCV000525098 | pathogenic | not provided | 2020-11-09 | criteria provided, single submitter | clinical testing | Published functional studies demonstrate that R128Q results in loss of PRUNE1 function (Nistala et al., 2020); Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 33105479, 26539891, 29372174) |
Lupski Lab, |
RCV000454286 | SCV000537908 | likely pathogenic | Abnormal brain morphology | criteria provided, single submitter | research | There are 3 more families with similar phenotype | |
Baylor Genetics | RCV000490541 | SCV001523167 | pathogenic | Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies | 2020-07-28 | criteria provided, single submitter | clinical testing | This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. |
OMIM | RCV000490541 | SCV000577903 | pathogenic | Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies | 2022-10-21 | no assertion criteria provided | literature only |