ClinVar Miner

Submissions for variant NM_006939.4(SOS2):c.2366T>C (p.Leu789Ser)

gnomAD frequency: 0.00018  dbSNP: rs142863840
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000792384 SCV000931680 likely benign Noonan syndrome 9 2024-01-20 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000792384 SCV002781115 uncertain significance Noonan syndrome 9 2021-07-06 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003235396 SCV003933864 likely benign not specified 2023-05-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV004994008 SCV005506167 likely benign Cardiovascular phenotype 2024-09-27 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.
PreventionGenetics, part of Exact Sciences RCV003965585 SCV004778573 likely benign SOS2-related disorder 2022-05-17 no assertion criteria provided 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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