ClinVar Miner

Submissions for variant NM_003070.5(SMARCA2):c.4638C>G (p.Asp1546Glu)

gnomAD frequency: 0.17040  dbSNP: rs2296212
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000298011 SCV000479288 benign Nicolaides-Baraitser syndrome 2018-03-06 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.
Ambry Genetics RCV002312018 SCV000846043 benign Inborn genetic diseases 2016-03-16 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: 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.
GeneDx RCV001650946 SCV001866526 benign not provided 2018-07-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 19363039)
Invitae RCV001650946 SCV002403663 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498477 SCV002808783 benign Nicolaides-Baraitser syndrome; Blepharophimosis-impaired intellectual development syndrome 2021-12-06 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000114292 SCV000147851 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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