ClinVar Miner

Submissions for variant NM_003079.5(SMARCE1):c.531A>G (p.Glu177=)

gnomAD frequency: 0.00003  dbSNP: rs377424178
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000541144 SCV000637327 likely benign Familial meningioma 2024-01-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV001023915 SCV001185858 likely benign Hereditary cancer-predisposing syndrome 2018-11-06 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.
CeGaT Center for Human Genetics Tuebingen RCV004597821 SCV005092482 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing SMARCE1: BP4, BP7

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