ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.2460C>T (p.Tyr820=)

gnomAD frequency: 0.00010  dbSNP: rs372410282
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000192713 SCV000248957 uncertain significance not specified 2015-05-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000205351 SCV000262355 benign Rhabdoid tumor predisposition syndrome 2 2025-02-02 criteria provided, single submitter clinical testing
GeneDx RCV001711503 SCV000530092 likely benign not provided 2020-02-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV000566380 SCV000663993 likely benign Hereditary cancer-predisposing syndrome 2024-04-23 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.
Illumina Laboratory Services, Illumina RCV001128550 SCV001288013 benign Coffin-Siris syndrome 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Genome-Nilou Lab RCV001808540 SCV002056178 likely benign Intellectual disability, autosomal dominant 16 2021-07-15 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000566380 SCV002532845 likely benign Hereditary cancer-predisposing syndrome 2020-07-07 criteria provided, single submitter curation
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001711503 SCV004220409 benign not provided 2023-08-28 criteria provided, single submitter clinical testing

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