ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.4875C>T (p.Val1625=)

gnomAD frequency: 0.00019  dbSNP: rs146427223
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000229350 SCV000286121 likely benign Rhabdoid tumor predisposition syndrome 2 2024-01-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV000561612 SCV000663961 likely benign Hereditary cancer-predisposing syndrome 2015-11-11 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 RCV000561612 SCV002535202 likely benign Hereditary cancer-predisposing syndrome 2021-09-12 criteria provided, single submitter curation
PreventionGenetics, part of Exact Sciences RCV003919935 SCV004732730 likely benign SMARCA4-related disorder 2022-09-22 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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