ClinVar Miner

Submissions for variant NM_002755.4(MAP2K1):c.648C>T (p.Ile216=)

gnomAD frequency: 0.00123  dbSNP: rs148968935
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen RASopathy Variant Curation Expert Panel RCV000462219 SCV000616552 benign RASopathy 2017-05-09 reviewed by expert panel curation The filtering allele frequency of the c.648C>T (p.Ile216=) variant in the MAP2K1 gene is 0.274% (38/10402) 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)
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000037597 SCV000061257 likely benign not specified 2012-06-13 criteria provided, single submitter clinical testing Ile216Ile in exon 6 of MAP2K1: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and it is not located within the splice consensus sequence.
Invitae RCV000462219 SCV000556852 benign RASopathy 2024-01-19 criteria provided, single submitter clinical testing
GeneDx RCV001530750 SCV001745647 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001813324 SCV002060559 benign Noonan syndrome and Noonan-related syndrome 2018-07-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002362628 SCV002658138 likely benign Cardiovascular phenotype 2022-02-20 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.
PreventionGenetics, part of Exact Sciences RCV004534796 SCV004729355 benign MAP2K1-related disorder 2020-05-27 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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