ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.4677C>T (p.Ser1559=)

gnomAD frequency: 0.00001  dbSNP: rs143683859
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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 RCV000470463 SCV000559372 likely benign Rhabdoid tumor predisposition syndrome 2 2024-01-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV000570617 SCV000663917 likely benign Hereditary cancer-predisposing syndrome 2015-06-28 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 RCV003884562 SCV004699886 likely benign not provided 2023-12-01 criteria provided, single submitter clinical testing SMARCA4: BP4, BP7

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