ClinVar Miner

Submissions for variant NM_021222.3(PRUNE1):c.383G>A (p.Arg128Gln)

gnomAD frequency: 0.00003  dbSNP: rs767769359
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx 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, Baylor-Hopkins CMG, Baylor College of Medicine 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

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