ClinVar Miner

Submissions for variant NM_002709.3(PPP1CB):c.545T>A (p.Met182Lys)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratorio de Biologia Molecular - Genetica, Hospital de Pediatria Garrahan RCV001293456 SCV001443102 likely pathogenic Noonan syndrome-like disorder with loose anagen hair 2 2020-08-28 criteria provided, single submitter clinical testing This variant is not identified in the databases, including ExAC, 1000genomes, or HGVD. It is described in a family were the mother and three children with Noonan syndrome with loose anagen hair phenotype harbored the variant. The variant c.548A>C (p.Glu183Ala) was previously described as pathogenic.
GeneDx RCV002282501 SCV002571342 uncertain significance not provided 2022-01-07 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); 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: 33491856)
Service de Génétique Moléculaire, Hôpital Robert Debré RCV001251212 SCV001426697 likely pathogenic Noonan syndrome no assertion criteria provided clinical testing

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