Submissions for variant NM_003072.5(SMARCA4):c.3846C>T (p.Asn1282=)

gnomAD frequency: 0.00001  dbSNP: rs776413354

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000647008	SCV000768793	likely benign	Rhabdoid tumor predisposition syndrome 2	2024-12-02	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001021279	SCV001182874	likely benign	Hereditary cancer-predisposing syndrome	2015-08-18	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001811418	SCV001472818	likely benign	not provided	2020-08-11	criteria provided, single submitter	clinical testing
GeneDx	RCV001811418	SCV004024020	uncertain significance	not provided	2024-01-08	criteria provided, single submitter	clinical testing	Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV001811418	SCV004220433	uncertain significance	not provided	2023-09-06	criteria provided, single submitter	clinical testing	To the best of our knowledge, this variant has not been reported in the published literature. The frequency of this variant in the general population, 0.000013 (2/152108 chromosomes (Genome Aggregation Database, http://gnomad.broadinstitute.org)), is uninformative in the assessment of its pathogenicity. 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.
PreventionGenetics, part of Exact Sciences	RCV003892466	SCV004709805	likely benign	SMARCA4-related disorder	2021-12-06	no assertion criteria provided	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).