ClinVar Miner

Submissions for variant NM_005633.4(SOS1):c.38A>G (p.Glu13Gly)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital RCV001543121 SCV001761638 uncertain significance Noonan syndrome 2021-06-24 criteria provided, single submitter clinical testing The SOS1 c.38A>G (p.Glu13Gly) missense change is absent in gnomAD v2.1.1 (PM2; This variant occurs in a gene where missense variants are more likely to be damaging based on methods described by Lek et al. (PP2; PMID: 27535533). In silico tools are not in agreement about the effect of this variant on protein function, but to our knowledge these predictions have not been confirmed by functional studies. To our knowledge, this variant has not been reported in individuals with Noonan syndrome. In summary, this variant meets criteria to be classified as of uncertain significance based on the ACMG/AMP criteria, as specified by the RASopathy Variant Curation Expert Panel (PMID:29493581): PM2, PP2.

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