ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.4254C>T (p.Asp1418=)

gnomAD frequency: 0.00006  dbSNP: rs370380553
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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 RCV000534822 SCV000648106 likely benign Rhabdoid tumor predisposition syndrome 2 2024-01-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV000562005 SCV000664107 likely benign Hereditary cancer-predisposing syndrome 2015-09-21 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.
Sema4, Sema4 RCV000562005 SCV002532970 likely benign Hereditary cancer-predisposing syndrome 2022-01-27 criteria provided, single submitter curation

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