ClinVar Miner

Submissions for variant NM_030662.4(MAP2K2):c.682G>C (p.Val228Leu)

dbSNP: rs999810842
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001046546 SCV001210451 uncertain significance RASopathy 2023-10-02 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 228 of the MAP2K2 protein (p.Val228Leu). This variant is not present in population databases (gnomAD no frequency). 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: 843844). 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. 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.
PreventionGenetics, part of Exact Sciences RCV003983827 SCV004797922 uncertain significance MAP2K2-related condition 2024-02-12 criteria provided, single submitter clinical testing The MAP2K2 c.682G>C variant is predicted to result in the amino acid substitution p.Val228Leu. To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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