ClinVar Miner

Submissions for variant NM_003073.5(SMARCB1):c.438A>G (p.Pro146=) (rs35105793)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000587734 SCV000287851 benign not provided 2020-12-08 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000252116 SCV000309371 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000562937 SCV000675204 benign Hereditary cancer-predisposing syndrome 2016-08-03 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000587734 SCV000698160 benign not provided 2016-05-25 criteria provided, single submitter clinical testing Variant summary: The SMARCB1 c.438A>G (p.Pro146Pro) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. 5/5 splice prediction tools in Alamut predict no change to normal splicing. This variant was found in 193/121404 control chromosomes (including 3 homozygotes), predominantly observed in the African subpopulation at a frequency of 0.0167211 (174/10406). This frequency is significantly greater than the estimated maximal expected allele frequency of a pathogenic SMARCB1 variant (0.0000001), highly suggesting this is a benign polymorphism found primarily in populations of African origin. Based on the synonymous nature of this variant and the high allele frequency in the general population, this variant is classified as Benign.
Illumina Clinical Services Laboratory,Illumina RCV001143958 SCV001304525 benign Rhabdoid tumor predisposition syndrome 1 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.
Illumina Clinical Services Laboratory,Illumina RCV001143959 SCV001304526 benign Schwannomatosis 1 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.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000587734 SCV001334885 likely benign not provided 2020-04-01 criteria provided, single submitter clinical testing

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