ClinVar Miner

Submissions for variant NM_002834.4(PTPN11):c.255C>T (p.His85=) (rs61736914)

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Total submissions: 15
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000037642 SCV000206754 benign not specified 2017-04-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000250837 SCV000318295 benign Cardiovascular phenotype 2015-09-17 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Ambry Genetics RCV000715577 SCV000846406 benign History of neurodevelopmental disorder 2015-09-17 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Baylor Genetics RCV000149837 SCV000196681 benign Rasopathy no assertion criteria provided clinical testing Variant classified using ACMG guidelines
ClinGen RASopathy Variant Curation Expert Panel RCV000149837 SCV000616443 benign Rasopathy 2017-04-18 reviewed by expert panel curation The filtering allele frequency of the c.255C>T (p.His85=) variant in the PTPN11 gene is 7.417% (818/10402) of African 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)
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000037642 SCV000058292 benign not specified 2013-03-01 criteria provided, single submitter clinical testing
GeneDx RCV000037642 SCV000171231 benign not specified 2012-01-17 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.
Greenwood Genetic Center Diagnostic Laboratories,Greenwood Genetic Center RCV000037642 SCV000207664 benign not specified 2015-01-15 no assertion criteria provided clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000356750 SCV000376320 likely benign Metachondromatosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000273664 SCV000376321 likely benign Noonan syndrome with multiple lentigines 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000030387 SCV000376322 likely benign Noonan syndrome 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000030387 SCV000053056 benign Noonan syndrome 2011-10-26 no assertion criteria provided clinical testing
Invitae RCV000149837 SCV000560642 benign Rasopathy 2017-12-26 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000037642 SCV000061304 benign not specified 2015-01-08 criteria provided, single submitter clinical testing p.His85His in exon 3 of PTPN11: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 7.8% (830/10580) o f African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.bro adinstitute.org; dbSNP rs61736914).
PreventionGenetics RCV000037642 SCV000309206 benign not specified criteria provided, single submitter clinical testing

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