ClinVar Miner

Submissions for variant NM_005633.4(SOS1):c.1293_1294delinsGA (p.Trp432Arg) (rs1572830693)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000826185 SCV000967728 likely pathogenic Noonan syndrome 2019-03-06 criteria provided, single submitter clinical testing The p.Trp432Arg (c.1293_1294delinsGA) variant in SOS1 has not been previously reported in individuals with a RASopathy and was absent from large population studies. However, another variant (c.1294T>C) resulting in the same amino acid change has been identified in individuals with Noonan syndrome and is classified as pathogenic by this laboratory. Computational prediction tools and conservation analysis suggest that this variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, although additional studies are required to fully establish its clinical significance, this variant meets criteria to be classified as likely pathogenic. ACMG/AMP Criteria applied: PS1, PM2, PP3.

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