Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV000463260 | SCV000616563 | benign | RASopathy | 2017-05-09 | reviewed by expert panel | curation | The filtering allele frequency of the c.1093-6T>C variant in the MAP2K2 gene is 0.166% (9/2834) 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, |
RCV000039471 | SCV000063155 | likely benign | not specified | 2012-06-28 | criteria provided, single submitter | clinical testing | 1093-6C>T in intron 10 of MAP2K2: This variant is not expected to have clinical significance because it has been identified in 0.23% (10/4324) of African Americ an chromosomes from a broad population by the NHLBI Exome Sequencing Project (ht tp://evs.gs.washington.edu/EVS/). In addition, splicing variants have not been r eported in Noonan syndrome. |
Gene |
RCV000590120 | SCV000513532 | benign | not provided | 2019-12-18 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000463260 | SCV000561658 | likely benign | RASopathy | 2024-01-28 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000590120 | SCV000699627 | benign | not provided | 2016-08-15 | criteria provided, single submitter | clinical testing | Variant summary: The MAP2K2 c.1093-6T>C variant involves the alteration of a conserved intronic nucleotide. Mutation Taster predicts a benign outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant was found in 9/21250 control chromosomes, predominantly observed in the African subpopulation at a frequency of 0.0031757 (9/2834). This frequency is about 1270 times the estimated maximal expected allele frequency of a pathogenic MAP2K2 variant (0.0000025), suggesting this is likely a benign polymorphism found primarily in the populations of African origin. One clinical diagnostic laboratory has classified this variant as likely benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publications. Taken together, this variant is classified as Benign. |
ARUP Laboratories, |
RCV003741149 | SCV004563310 | benign | Cardiofaciocutaneous syndrome 4 | 2023-09-29 | criteria provided, single submitter | clinical testing |