ClinVar Miner

Submissions for variant NM_002755.4(MAP2K1):c.872G>A (p.Arg291Lys)

dbSNP: rs1595886354
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005092461 SCV005734607 uncertain significance RASopathy 2024-11-27 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with lysine, which is basic and polar, at codon 291 of the MAP2K1 protein (p.Arg291Lys). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with MAP2K1-related conditions. ClinVar contains an entry for this variant (Variation ID: 666421). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt MAP2K1 protein function with a negative predictive value of 95%. 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.
Service de Génétique Moléculaire, Hôpital Robert Debré RCV000824939 SCV000965974 likely benign Noonan syndrome no assertion criteria provided clinical testing

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