ClinVar Miner

Submissions for variant NM_030662.4(MAP2K2):c.1042A>G (p.Lys348Glu)

dbSNP: rs1460336485
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001334283 SCV001527083 uncertain significance Cardiofaciocutaneous syndrome 4 2018-04-20 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV001865804 SCV002212620 uncertain significance RASopathy 2021-05-31 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with MAP2K2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1032231). This variant is not present in population databases (ExAC no frequency). This sequence change replaces lysine with glutamic acid at codon 348 of the MAP2K2 protein (p.Lys348Glu). The lysine residue is moderately conserved and there is a small physicochemical difference between lysine and glutamic acid.

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