ClinVar Miner

Submissions for variant NM_030662.3(MAP2K2):c.529-5T>C (rs766943752)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000589530 SCV000699638 uncertain significance not provided 2016-12-27 criteria provided, single submitter clinical testing Variant summary: The MAP2K2 c.529-5T>C variant involves the alteration of a non-conserved intronic nucleotide. Mutation Taster predicts a benign outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant was found in 1/34908 control chromosomes at a frequency of 0.0000286, which is approximately 11 times the estimated maximal expected allele frequency of a pathogenic MAP2K2 variant (0.0000025), suggesting this variant is possibly a benign polymorphism. However, single variant occurrence is not sufficient enough to rule out chance occurrence or ascertainment bias. One clinical diagnostic laboratory has classified this variant as likely benign without evidence to independently evaluate. The variant of interest has not, to our knowledge, been reported in affected individuals in literature. Because of the absence of clinical information and the lack of functional studies, the variant is classified as a variant of uncertain significance (VUS) until additional information becomes available.
PreventionGenetics RCV000247121 SCV000314696 likely benign not specified criteria provided, single submitter clinical testing

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