ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.2626-21_2626-20dup (rs5901000)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000202910 SCV000257672 benign Tuberous sclerosis 1 2015-07-10 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000586176 SCV000696605 benign not provided 2016-05-26 criteria provided, single submitter clinical testing Variant summary: The TSC1 c.2626-5_2626-4dupTT variant involves the duplication of two intronic nucleotides. 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 12290/80186 control chromosomes (278 homozygotes) at a frequency of 0.1532687, which greatly exceeds the estimated maximal expected allele frequency of a pathogenic TSC1 variant (0.000025), suggesting this variant is likely a benign polymorphism. In addition, one clinical diagnostic lab/reputable database classified this variant as benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publications nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as benign.

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