ClinVar Miner

Submissions for variant NM_006939.4(SOS2):c.3825T>C (p.Tyr1275=)

gnomAD frequency: 0.00001  dbSNP: rs1163199209
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001290607 SCV001478701 likely benign not specified 2021-01-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003120536 SCV003785385 likely benign Noonan syndrome 9 2024-11-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV004035579 SCV005025081 likely benign Cardiovascular phenotype 2024-02-17 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.

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