ClinVar Miner

Submissions for variant NM_005633.4(SOS1):c.543A>G (p.Glu181=)

gnomAD frequency: 0.00001  dbSNP: rs201068374
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000655003 SCV000776920 likely benign RASopathy 2024-10-07 criteria provided, single submitter clinical testing
GeneDx RCV001692254 SCV001914211 benign not provided 2019-09-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002467977 SCV002763531 likely benign Noonan syndrome 4 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002467976 SCV002763532 likely benign Fibromatosis, gingival, 1 criteria provided, single submitter clinical testing
Ambry Genetics RCV004025946 SCV005023714 likely benign Cardiovascular phenotype 2023-11-01 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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