ClinVar Miner

Submissions for variant NM_006939.4(SOS2):c.624_673dup (p.Arg225delinsGlnLysLysAspSerIleTyrGlyAsnTer)

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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 RCV001174983 SCV001338470 uncertain significance not specified 2020-04-13 criteria provided, single submitter clinical testing Variant summary: SOS2 c.624_673dup50 (p.Arg225GlnfsX10) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay. The variant was absent in 236676 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.624_673dup50 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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