ClinVar Miner

Submissions for variant NM_002834.4(PTPN11):c.1232C>T (p.Thr411Met) (rs121918467)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen RASopathy Variant Curation Expert Panel RCV001030087 SCV001192880 uncertain significance Rasopathy 2019-12-05 reviewed by expert panel curation The c.1232C>T (p.Thr411Met) variant PTPN11 is present in 0.003% (3/113264) non-Finnish European alleles in gnomAD. The variant is located in the PTPN11 gene, which has been defined by the ClinGen RASopathy Expert Panel as a gene with a low rate of benign missense variants and pathogenic missense variants are common (PP2; PMID: 29493581). Observed cases from laboratories and publications lack sufficient clinical phenotypic information to support or refute pathogenicity (Institut Universitaire d'Hematologie internal data; Institute of Human Genetics, University Hospital Magdeburg, Germany internal data; PMID:15384080). In summary, the clinical significance of the p.Thr411Met variant is uncertain. RASopathy-specific ACMG/AMP criteria applied (PMID:29493581): PP2.
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn RCV000014269 SCV000999281 pathogenic Noonan syndrome 1 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV001091427 SCV001247467 uncertain significance not provided 2019-07-01 criteria provided, single submitter clinical testing
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia RCV001293768 SCV001480521 likely pathogenic Acute megakaryoblastic leukemia in down syndrome 2020-09-01 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001091427 SCV001714428 uncertain significance not provided 2019-09-16 criteria provided, single submitter clinical testing
OMIM RCV000014269 SCV000034518 pathogenic Noonan syndrome 1 2004-11-01 no assertion criteria provided literature only

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