ClinVar Miner

Submissions for variant NM_006939.4(SOS2):c.621C>T (p.Ile207=)

gnomAD frequency: 0.00061  dbSNP: rs147109760
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000539531 SCV000656036 benign Noonan syndrome 9 2023-12-21 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001251287 SCV001426822 benign not specified 2020-07-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002367953 SCV002658469 likely benign Cardiovascular phenotype 2022-03-23 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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 RCV000539531 SCV002763125 benign Noonan syndrome 9 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003905466 SCV004722241 benign SOS2-related condition 2020-04-06 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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