ClinVar Miner

Submissions for variant NM_005633.4(SOS1):c.162A>G (p.Gln54=)

gnomAD frequency: 0.00003  dbSNP: rs763520126
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000248609 SCV000311185 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001705368 SCV000730058 likely benign not provided 2019-08-23 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000248609 SCV001338594 likely benign not specified 2020-04-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001237896 SCV001410683 likely benign RASopathy 2024-12-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002401957 SCV002708110 likely benign Cardiovascular phenotype 2020-03-27 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.

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