ClinVar Miner

Submissions for variant NM_006939.4(SOS2):c.769_858+8dup

dbSNP: rs1885775324
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001174994 SCV001338487 uncertain significance not specified 2020-04-20 criteria provided, single submitter clinical testing Variant summary: The variant, c.769_858+8dup98 in the SOS2 gene involves the duplication of nucleotides overlapping a splice-stie. The variant was absent in 250938 control chromosomes. Several computational tools predict a significant impact on normal splicing: Four predict the variant creates a 5' donor site. However, these predictions have yet to be confirmed by functional studies. To our knowledge, no occurrence of c.769_858+8dup98 in individuals affected with Noonan Syndrome And Related Conditions and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.

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