Submissions for variant NM_030662.4(MAP2K2):c.787G>A (p.Gly263Arg)

gnomAD frequency: 0.00002  dbSNP: rs730880522

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000158047	SCV000207982	likely pathogenic	not provided	2014-02-03	criteria provided, single submitter	clinical testing	p.Gly263Arg (GGA>AGA): c.787 G>A in exon 7 of the MAP2K2 gene (NM_030662.3). The G263R missense change has not been previously reported as a disease-causing mutation or as a benign polymorphism, to our knowledge. The G263R missense change is a non-conservative amino acid substitution with a non-polar and neutral residue (Gly) being replaced by a polar and positively charged residue (Arg). The residue at which this substitution occurs is highly conserved. Another missense mutation (K273R) has been reported at a nearby residue. The G263R variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Although the majority of missense changes in MAP2K2 are pathogenic mutations, the potential for benign coding variants to exist in this gene must be considered. This variant has been observed to be paternally inherited. The variant is found in NOONAN panel(s).
CeGaT Center for Human Genetics Tuebingen	RCV000158047	SCV001501214	uncertain significance	not provided	2020-12-01	criteria provided, single submitter	clinical testing
Mendelics	RCV002247552	SCV002518212	uncertain significance	not specified	2022-05-04	criteria provided, single submitter	clinical testing