Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001880002 | SCV002258446 | uncertain significance | RASopathy | 2023-09-21 | criteria provided, single submitter | clinical testing | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 214 of the MAP2K2 protein (p.Gly214Arg). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with MAP2K2-related conditions. ClinVar contains an entry for this variant (Variation ID: 981555). Advanced modeling performed at Invitae incorporating data from internal and/or published experimental studies (Invitae) indicates that this missense variant is not expected to disrupt MAP2K2 function. |
Preventiongenetics, |
RCV003405468 | SCV004107363 | uncertain significance | MAP2K2-related condition | 2023-05-17 | criteria provided, single submitter | clinical testing | The MAP2K2 c.640G>A variant is predicted to result in the amino acid substitution p.Gly214Arg. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0043% of alleles in individuals of European (Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/19-4101082-C-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |
Service de Génétique Moléculaire, |
RCV001261062 | SCV001438464 | likely benign | Noonan syndrome | no assertion criteria provided | clinical testing |