ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.1074G>A (p.Pro358=)

gnomAD frequency: 0.00002  dbSNP: rs374167170
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000231816 SCV000285970 likely benign Rhabdoid tumor predisposition syndrome 2 2024-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000568372 SCV000663896 likely benign Hereditary cancer-predisposing syndrome 2015-06-27 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 RCV001122753 SCV001281508 benign Coffin-Siris syndrome 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx RCV001570774 SCV001795121 likely benign not provided 2020-05-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001808588 SCV002057043 likely benign Intellectual disability, autosomal dominant 16 2021-07-15 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000568372 SCV002532360 benign Hereditary cancer-predisposing syndrome 2021-03-21 criteria provided, single submitter curation
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001570774 SCV004220374 likely benign not provided 2023-09-08 criteria provided, single submitter clinical testing

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