ClinVar Miner

Submissions for variant NM_030662.4(MAP2K2):c.141C>T (p.Asp47=)

gnomAD frequency: 0.00003  dbSNP: rs201526172
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen RASopathy Variant Curation Expert Panel RCV000523895 SCV000616589 benign RASopathy 2017-05-09 reviewed by expert panel curation The filtering allele frequency of the c.141C>T (p.Asp47=) variant in the MAP2K2 gene is 0.054% (9/8646) of East 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 RCV001637063 SCV001848538 benign not provided 2020-01-28 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001813495 SCV002060570 benign Noonan syndrome and Noonan-related syndrome 2021-06-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000523895 SCV002419317 benign RASopathy 2023-03-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002395242 SCV002699758 likely benign Cardiovascular phenotype 2021-05-13 criteria provided, single submitter clinical testing This alteration is classified as likely 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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