ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.5117G>A (p.Arg1706His)

gnomAD frequency: 0.00006  dbSNP: rs45517392
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000233434 SCV000243611 likely benign not provided 2021-06-23 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 25186949, 27535533, 27170661, 32830346)
Invitae RCV001079298 SCV000285441 benign Tuberous sclerosis 2 2024-01-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV000576072 SCV000675547 likely benign Hereditary cancer-predisposing syndrome 2018-03-20 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
CeGaT Center for Human Genetics Tuebingen RCV000233434 SCV001150722 uncertain significance not provided 2016-05-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001079298 SCV002040252 likely benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000576072 SCV002534017 likely benign Hereditary cancer-predisposing syndrome 2021-06-30 criteria provided, single submitter curation
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000233434 SCV003799919 likely benign not provided 2022-08-23 criteria provided, single submitter clinical testing
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University RCV003153329 SCV003843270 benign Ovarian cancer 2022-01-01 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001079298 SCV004360937 uncertain significance Tuberous sclerosis 2 2023-11-29 criteria provided, single submitter clinical testing This missense variant replaces arginine with histidine at codon 1706 of the TSC2 protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has been reported in individuals affected with renal carcinoma in the literature (PMID: 32830346). This variant has been identified in 22/281760 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Tuberous sclerosis database (TSC2) RCV000042716 SCV000066511 not provided Tuberous sclerosis syndrome no assertion provided curation
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000233434 SCV001980608 likely benign not provided no assertion criteria provided clinical testing

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