ClinVar Miner

Submissions for variant NM_030662.3(MAP2K2):c.706-1_706delinsTT (rs1599287155)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000811084 SCV000951331 uncertain significance Rasopathy 2018-10-02 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 6 of the MAP2K2 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with MAP2K2-related disease. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in MAP2K2 cause disease. 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.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000825042 SCV000966241 uncertain significance not specified 2019-03-06 criteria provided, single submitter clinical testing The c.706-1_706delinsTT variant in MAP2K2 has not been previously reported in in dividuals with a RASopathy and was absent from large population studies. This va riant occurs within the canonical splice site (+/- 1,2) and is predicted to caus e altered splicing leading to an abnormal or absent protein; however, loss of fu nction is not an established mechanism of disease in this gene. In summary, the clinical significance of this variant is uncertain. ACMG/AMP Criteria applied: P M2.

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