ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.-7C>T (rs62621221)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000125621 SCV000169078 benign not specified 2013-10-11 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Vantari Genetics RCV000210810 SCV000267095 benign Hereditary cancer-predisposing syndrome 2016-01-22 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000125621 SCV000303838 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001095336 SCV000478269 benign Tuberous sclerosis 1 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.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000125621 SCV000861485 benign not specified 2018-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000125621 SCV000966546 likely benign not specified 2018-07-03 criteria provided, single submitter clinical testing c.-7C>T in intron 2 of TSC1: This variant is classified as likely benign because a C>T/T>C change at this position does not diverge from the splice consensus se quence and is therefore unlikely to impact splicing. It has been identified in i n 0.1% (216/126578) of European chromosomes by the Genome Aggregation Database ( gnomAD, http://gnomad.broadinstitute.org; dbSNP rs62621221). ACMG/AMP Criteria a pplied: BP4, BP7, BS1_Supporting.
Illumina Clinical Services Laboratory,Illumina RCV001167930 SCV001330478 benign Focal cortical dysplasia type II 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.
Tuberous sclerosis database (TSC1) RCV000054968 SCV000083186 not provided Tuberous sclerosis syndrome no assertion provided curation

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