ClinVar Miner

Submissions for variant NM_021222.3(PRUNE1):c.88G>A (p.Asp30Asn) (rs1057521927)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000454192 SCV000537907 likely pathogenic Abnormality of brain morphology criteria provided, single submitter research There are 3 more families with similar phenotype
GeneDx RCV000425463 SCV000525097 likely pathogenic not provided 2017-02-17 no assertion criteria provided clinical testing The D30N variant in the PRUNE gene has been reported previously as homozygous in an individual with cerebral and cerebellar atrophy, microcephaly, seizures, and severe developmental delay whose parents were consanguineous (Karaca et al., 2015). The D30N variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The D30N variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs in the DHH catalytic domain at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to protein structure/function. In summary, D30N is a strong candidate for a pathogenic variant.
OMIM RCV000490538 SCV000577902 pathogenic Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies 2017-09-19 no assertion criteria provided literature only

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