ClinVar Miner

Submissions for variant NM_003070.5(SMARCA2):c.1080A>G (p.Glu360=)

gnomAD frequency: 0.00019  dbSNP: rs138782877
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001677948 SCV001894849 benign not provided 2020-04-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001677948 SCV002456056 benign not provided 2025-01-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002421239 SCV002729921 likely benign Inborn genetic diseases 2018-01-31 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 RCV003975900 SCV004789789 benign SMARCA2-related disorder 2019-05-07 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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