ClinVar Miner

Submissions for variant NM_003079.5(SMARCE1):c.696G>A (p.Gln232=)

gnomAD frequency: 0.00001  dbSNP: rs2293417
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001025857 SCV001188128 likely benign Hereditary cancer-predisposing syndrome 2018-11-02 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002067693 SCV002328494 likely benign Familial meningioma 2023-11-15 criteria provided, single submitter clinical testing
GeneDx RCV004773236 SCV005385206 uncertain significance not provided 2024-01-08 criteria provided, single submitter clinical testing In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge

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