ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.2617-5C>T

gnomAD frequency: 0.00002  dbSNP: rs377743250
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000475168 SCV000548502 likely benign Rhabdoid tumor predisposition syndrome 2 2024-01-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV000572077 SCV000664057 likely benign Hereditary cancer-predisposing syndrome 2020-11-06 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.
GeneDx RCV000616954 SCV000727592 likely benign not specified 2018-02-14 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genome-Nilou Lab RCV001809410 SCV002056181 likely benign Intellectual disability, autosomal dominant 16 2021-07-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003311819 SCV004011012 likely benign not provided 2023-04-01 criteria provided, single submitter clinical testing SMARCA4: BP4
PreventionGenetics, part of Exact Sciences RCV003899921 SCV004710294 likely benign SMARCA4-related disorder 2021-08-20 criteria provided, single submitter 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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