ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.2626-5_2626-4dup

dbSNP: rs5901000
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000202910 SCV000257672 benign Tuberous sclerosis 1 2015-07-10 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000202910 SCV001721434 benign Tuberous sclerosis 1 2024-01-20 criteria provided, single submitter clinical testing
GeneDx RCV000586176 SCV001901743 benign not provided 2019-08-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000202910 SCV002040367 benign Tuberous sclerosis 1 2021-11-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002256402 SCV002528878 benign Hereditary cancer-predisposing syndrome 2019-12-09 criteria provided, single submitter curation
Ambry Genetics RCV002256402 SCV002745673 benign Hereditary cancer-predisposing syndrome 2020-07-06 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, 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.
Fulgent Genetics, Fulgent Genetics RCV002506398 SCV002801215 benign Lymphangiomyomatosis; Tuberous sclerosis 1; Isolated focal cortical dysplasia type II 2022-05-18 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000202910 SCV004360809 benign Tuberous sclerosis 1 2018-03-05 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001796128 SCV002034190 benign not specified no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001796128 SCV002035528 benign not specified no assertion criteria provided clinical testing

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