ClinVar Miner

Submissions for variant NM_006939.4(SOS2):c.2234_2278dup (p.Gly745_Ile759dup)

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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 RCV001193660 SCV001362639 uncertain significance not specified 2019-12-30 criteria provided, single submitter clinical testing Variant summary: The variant involves the duplication of 45 nucleotides in exon 14 in the SOS2 gene. A presumed nomenclature of c.2234_2278dup45 has been designated for the purposes of this classification. The variant was absent in 251370 control chromosomes (gnomAD). To our knowledge, no occurrence of c.2234_2278dup45 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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