ClinVar Miner

Submissions for variant NM_002834.5(PTPN11):c.1028G>A (p.Arg343Gln)

gnomAD frequency: 0.00001  dbSNP: rs535800148
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen RASopathy Variant Curation Expert Panel RCV000519427 SCV000616449 benign RASopathy 2017-04-18 reviewed by expert panel curation The filtering allele frequency of the c.1028G>A (p.Arg343Gln) variant in the PTPN11 gene is 0.116% (27/16494) of South Asian chromosomes by the Exome Aggregation Consortium, which is a high enough frequency to be classified as benign based on thresholds defined by the ClinGen RASopathy Expert Panel (BA1; PMID:29493581)
GeneDx RCV000159507 SCV000209461 benign not provided 2019-03-19 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000519427 SCV001060988 likely benign RASopathy 2023-12-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002381524 SCV002692926 benign Cardiovascular phenotype 2020-12-21 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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