ClinVar Miner

Submissions for variant NM_005633.4(SOS1):c.1289A>G (p.Asp430Gly)

dbSNP: rs2124537699
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001706761 SCV001934236 uncertain significance Noonan syndrome 4 2020-10-14 criteria provided, single submitter clinical testing
3billion RCV001706761 SCV002014710 uncertain significance Noonan syndrome 4 2021-10-25 criteria provided, single submitter clinical testing This varant is not observed in the gnomAD v2.1.1 dataset (PM2). Missense changes are a common disease-causing mechanism (PP2). In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.885, 3Cnet: 0.980, PP3). Therefore, this variant is classified as uncertain significance according to the recommendation of ACMG/AMP guideline.
Genome-Nilou Lab RCV001706761 SCV002763439 uncertain significance Noonan syndrome 4 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002468285 SCV002763440 uncertain significance Fibromatosis, gingival, 1 criteria provided, single submitter clinical testing

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