ClinVar Miner

Submissions for variant NM_002709.3(PPP1CB):c.820G>A (p.Glu274Lys)

dbSNP: rs886037955
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003985764 SCV000299378 likely pathogenic not provided 2020-03-07 criteria provided, single submitter clinical testing De novo variant with confirmed parentage in a patient with features of a PPP1CB-related disorder from the published literature (Ma et al., 2016); Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 27681385)
OMIM RCV000490625 SCV000579313 pathogenic Noonan syndrome-like disorder with loose anagen hair 2 2017-05-31 no assertion criteria provided literature only
PreventionGenetics, part of Exact Sciences RCV003909879 SCV004718098 uncertain significance PPP1CB-related disorder 2024-02-20 no assertion criteria provided clinical testing The PPP1CB c.820G>A variant is predicted to result in the amino acid substitution p.Glu274Lys. This variant has been reported as de novo in an individual with the clinical features of short stature, developmental delay, congenital heart defects, toe syndactyly, and high-arched palate (Ma et al. 2016. PubMed ID: 27681385). This variant has also been reported in a large screen of the Turkish population in an individual with unknown phenotype (Table S4, Kars et al. 2021. PubMed ID: 34426522). This variant has not been reported in a large population database, indicating this variant is rare. Although we suspect that this variant may be pathogenic, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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