ClinVar Miner

Submissions for variant NM_002834.4(PTPN11):c.893A>G (p.Asn298Ser) (rs572274623)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000159053 SCV000208995 uncertain significance not provided 2017-08-22 criteria provided, single submitter clinical testing The N298S variant has not been published as pathogenic or been reported as benign to our knowledge. This variant was identified in one individual referred for Noonan syndrome genetic testing who was positive for another pathogenic variant in PTPN11 at GeneDx. This variant is not observed at significant frequencies in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The N298S variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. In addition, this substitution occurs at a position where amino acids with similar properties to asparagine (N) are tolerated across species, and serine (S) is tolerated at this position in at least one species. Furthermore, in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function.
Blueprint Genetics RCV000208167 SCV000264158 uncertain significance Cardio-facio-cutaneous syndrome 2015-01-23 criteria provided, single submitter clinical testing

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