ClinVar Miner

Submissions for variant NM_002755.4(MAP2K1):c.332T>A (p.Ile111Asn)

dbSNP: rs1057519730
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001237931 SCV001410722 pathogenic RASopathy 2019-10-25 criteria provided, single submitter clinical testing This variant has been reported to affect MAP2K1 protein function (PMID: 19915144). For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with clinical features of Noonan syndrome (Invitae). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 376194). This variant is not present in population databases (ExAC no frequency). This sequence change replaces isoleucine with asparagine at codon 111 of the MAP2K1 protein (p.Ile111Asn). The isoleucine residue is highly conserved and there is a large physicochemical difference between isoleucine and asparagine.

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