ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.719C>T (p.Pro240Leu)

gnomAD frequency: 0.00003  dbSNP: rs201600949
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000225991 SCV000286140 likely benign Rhabdoid tumor predisposition syndrome 2 2024-01-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV000572758 SCV000675166 likely benign Hereditary cancer-predisposing syndrome 2021-05-05 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.
Genome-Nilou Lab RCV001808650 SCV002057995 likely benign Intellectual disability, autosomal dominant 16 2021-07-15 criteria provided, single submitter clinical testing

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