ClinVar Miner

Submissions for variant NM_001162426.2(TSC1):c.2623-21_2623-19dup (rs5901000)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000338735 SCV000478201 uncertain significance Focal cortical dysplasia type II 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000394927 SCV000478202 uncertain significance Tuberous sclerosis syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000549565 SCV000641587 benign Tuberous sclerosis 1 2017-07-17 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000588188 SCV000696606 benign not provided 2016-05-26 criteria provided, single submitter clinical testing Variant summary: The TSC1 c.2626-6_2626-4dupTTT variant involves the duplication of three nucleotides in an intronic region. One in silico tool predicts a benign outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant was found in 2772/80186 control chromosomes (50 homozygotes) at a frequency of 0.0345696, which greatly exceeds the estimated maximal expected allele frequency of a pathogenic TSC1 variant (0.000025), suggesting this variant is likely a benign polymorphism. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as benign.

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