ClinVar Miner

Submissions for variant NM_006939.4(SOS2):c.3614C>T (p.Pro1205Leu)

gnomAD frequency: 0.00071  dbSNP: rs113660113
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000877280 SCV001019994 likely benign Noonan syndrome 9 2024-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002454049 SCV002616681 benign Cardiovascular phenotype 2019-09-28 criteria provided, single submitter clinical testing This alteration is classified as 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 RCV000877280 SCV002762983 likely benign Noonan syndrome 9 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003948254 SCV004766288 likely benign SOS2-related disorder 2020-11-10 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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