ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.4272G>A (p.Pro1424=)

gnomAD frequency: 0.00462  dbSNP: rs114882905
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000206571 SCV000262255 benign Rhabdoid tumor predisposition syndrome 2 2024-02-01 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000395078 SCV000410508 benign Coffin-Siris syndrome 2018-01-13 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 RCV001722136 SCV000521683 likely benign not provided 2021-02-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV000574216 SCV000663877 benign Hereditary cancer-predisposing syndrome 2015-05-20 criteria provided, single submitter clinical testing This alteration is classified as 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 RCV002478743 SCV002047181 benign not specified 2021-05-24 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001808572 SCV002057102 benign Intellectual disability, autosomal dominant 16 2021-07-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002478744 SCV002795835 likely benign Rhabdoid tumor predisposition syndrome 2; Intellectual disability, autosomal dominant 16 2022-05-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001722136 SCV004701317 benign not provided 2024-02-01 criteria provided, single submitter clinical testing SMARCA4: BP4, BP7, BS1, BS2

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