ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.3849C>T (p.Pro1283=)

dbSNP: rs1201950108
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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 RCV000935108 SCV001080849 likely benign Rhabdoid tumor predisposition syndrome 2 2023-12-05 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002258056 SCV002532922 likely benign Hereditary cancer-predisposing syndrome 2021-02-02 criteria provided, single submitter curation
Ambry Genetics RCV002258056 SCV002625856 likely benign Hereditary cancer-predisposing syndrome 2015-12-21 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003478588 SCV004220434 uncertain significance not provided 2023-05-11 criteria provided, single submitter clinical testing To the best of our knowledge, this variant has not been reported in the published literature. It also has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). Analysis of this variant using software algorithms for the prediction of the effect of nucleotide changes on splicing yielded predictions that this variant does not affect SMARCA4 mRNA splicing . Based on the available information, we are unable to determine the clinical significance of this variant.

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