ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.3396G>A (p.Ala1132=)

gnomAD frequency: 0.00001  dbSNP: rs1060504446
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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 RCV000458863 SCV000559362 likely benign Rhabdoid tumor predisposition syndrome 2 2024-04-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV001020187 SCV001181633 likely benign Hereditary cancer-predisposing syndrome 2017-09-25 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.
Fulgent Genetics, Fulgent Genetics RCV002489119 SCV002804255 likely benign Rhabdoid tumor predisposition syndrome 2; Intellectual disability, autosomal dominant 16 2022-05-24 criteria provided, single submitter clinical testing

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