ClinVar Miner

Submissions for variant NM_002709.3(PPP1CB):c.548A>C (p.Glu183Ala) (rs886037954)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000257936 SCV000299377 pathogenic not provided 2016-09-08 criteria provided, single submitter clinical testing The E183A variant in the PPP1CB gene has been observed in internal GeneDx whole exome sequencing data in association with developmental delay, congenital heart defect, hypotonia, dysmorphic features, and connective tissue abnormalities. The E183A variant was not observed in approximately 6,500 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 E183A variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret E183A as a pathogenic variant.
OMIM RCV000490621 SCV000579311 pathogenic Noonan syndrome-like disorder with loose anagen hair 2 2017-05-31 no assertion criteria provided literature only

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