ClinVar Miner

Submissions for variant NM_006939.4(SOS2):c.2220A>C (p.Gln740His)

gnomAD frequency: 0.00004  dbSNP: rs576277421
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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 RCV001488369 SCV001692883 likely benign Noonan syndrome 9 2024-12-16 criteria provided, single submitter clinical testing
GeneDx RCV001762699 SCV001988883 benign not provided 2021-07-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002432371 SCV002730188 likely benign Cardiovascular phenotype 2021-10-29 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 RCV001488369 SCV002763046 likely benign Noonan syndrome 9 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003965993 SCV004782470 likely benign SOS2-related disorder 2019-09-06 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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