ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.924G>A (p.Thr308=)

dbSNP: rs944736912
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000574942 SCV000664198 likely benign Hereditary cancer-predisposing syndrome 2016-08-29 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000870640 SCV001012161 likely benign Rhabdoid tumor predisposition syndrome 2 2024-01-28 criteria provided, single submitter clinical testing
GeneDx RCV003322791 SCV004028259 uncertain significance not provided 2023-02-16 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; This variant is associated with the following publications: (PMID: 32686686)
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003322791 SCV004221256 likely benign not provided 2022-11-22 criteria provided, single submitter clinical testing

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