ClinVar Miner

Submissions for variant NM_006939.4(SOS2):c.147A>G (p.Glu49=)

gnomAD frequency: 0.00004  dbSNP: rs1030329651
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000539761 SCV000656010 likely benign Noonan syndrome 9 2023-01-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002395476 SCV002697094 likely benign Cardiovascular phenotype 2022-05-24 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.
Genome-Nilou Lab RCV000539761 SCV002763153 likely benign Noonan syndrome 9 criteria provided, single submitter clinical testing

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