ClinVar Miner

Submissions for variant NM_006939.4(SOS2):c.3812C>T (p.Pro1271Leu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003092552 SCV003478309 likely benign Noonan syndrome 9 2022-09-17 criteria provided, single submitter clinical testing
GeneDx RCV004775292 SCV005386030 uncertain significance not provided 2024-04-22 criteria provided, single submitter clinical testing Observed in a fetus with ventricular septal defect and thickened nuchal fold; however, familial segregation information was not provided (PMID: 34983622); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 34983622)

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