ClinVar Miner

Submissions for variant NM_002834.5(PTPN11):c.841A>G (p.Asn281Asp)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV004784872 SCV005397080 likely pathogenic Noonan syndrome 1 2024-10-11 criteria provided, single submitter clinical testing Criteria applied: PM1,PM2,PS4_SUP,PP2,PP3
GeneDx RCV005001476 SCV005626610 likely pathogenic not provided 2024-07-08 criteria provided, single submitter clinical testing Reported previously in a patient with a suspected genetic disorder; however, no clinical or segregation information was provided (PMID: 32978145); Not observed at significant frequency in large population cohorts (gnomAD); Missense variants in this gene are a common cause of disease and they are underrepresented in the general population; 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: 11992261, 9491886, 16053901, 29493581, 16717135, 32978145)

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