ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.828T>A (p.Pro276=)

gnomAD frequency: 0.00001  dbSNP: rs1057523267
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000420357 SCV000531299 likely benign not specified 2016-08-26 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.
Ambry Genetics RCV000566909 SCV000663959 likely benign Hereditary cancer-predisposing syndrome 2017-05-30 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 RCV000964715 SCV001111949 likely benign Rhabdoid tumor predisposition syndrome 2 2024-05-04 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003477931 SCV004221252 likely benign not provided 2023-02-13 criteria provided, single submitter clinical testing

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