ClinVar Miner

Submissions for variant NM_006939.4(SOS2):c.644G>A (p.Arg215Gln)

gnomAD frequency: 0.00004  dbSNP: rs538341032
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001779508 SCV002015038 likely benign not specified 2021-10-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002074068 SCV002467412 likely benign Noonan syndrome 9 2023-12-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002074068 SCV002763122 likely benign Noonan syndrome 9 criteria provided, single submitter clinical testing
Ambry Genetics RCV004040794 SCV004957709 likely benign Cardiovascular phenotype 2023-10-04 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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