ClinVar Miner

Submissions for variant NM_006939.4(SOS2):c.399A>G (p.Val133=)

dbSNP: rs144584870
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000616922 SCV000727904 likely benign not specified 2018-02-20 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV002064324 SCV002345520 likely benign Noonan syndrome 9 2024-01-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV002358734 SCV002622499 likely benign Cardiovascular phenotype 2019-10-21 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 RCV002064324 SCV002763137 likely benign Noonan syndrome 9 criteria provided, single submitter clinical testing

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