ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1747G>A (p.Ala583Thr)

gnomAD frequency: 0.00231  dbSNP: rs1800729
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Total submissions: 22
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000034646 SCV000169115 benign not provided 2019-02-20 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 10205261, 17304050, 22703879, 27997549, 28003660, 25925381, 23718828, 23514105, 26094658, 19254590, 24728327, 29607586)
Ambry Genetics RCV000129673 SCV000184472 benign Hereditary cancer-predisposing syndrome 2015-01-08 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.
Genetic Services Laboratory, University of Chicago RCV000122209 SCV000249205 likely benign not specified 2015-02-02 criteria provided, single submitter clinical testing
Invitae RCV000204294 SCV000262167 benign Tuberous sclerosis 2 2024-02-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000122209 SCV000305158 benign not specified 2016-01-26 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000122209 SCV000331488 benign not specified 2015-10-26 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000054859 SCV000395589 benign Tuberous sclerosis syndrome 2018-01-13 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.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000034646 SCV000610302 likely benign not provided 2017-06-22 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000204294 SCV000677537 benign Tuberous sclerosis 2 2017-05-30 criteria provided, single submitter clinical testing
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV000034646 SCV002011351 likely benign not provided 2021-11-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000204294 SCV002041377 benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000129673 SCV002530994 benign Hereditary cancer-predisposing syndrome 2020-08-31 criteria provided, single submitter curation
CeGaT Center for Human Genetics Tuebingen RCV000034646 SCV002563282 likely benign not provided 2024-05-01 criteria provided, single submitter clinical testing TSC2: PM5, BS1
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000122209 SCV002774065 benign not specified 2021-07-20 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000204294 SCV004360870 benign Tuberous sclerosis 2 2022-09-20 criteria provided, single submitter clinical testing
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000034646 SCV000043529 no known pathogenicity not provided 2012-07-13 no assertion criteria provided research Converted during submission to Benign.
Tuberous sclerosis database (TSC2) RCV000054859 SCV000066778 not provided Tuberous sclerosis syndrome no assertion provided curation
ITMI RCV000122209 SCV000086430 not provided not specified 2013-09-19 no assertion provided reference population
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000034646 SCV001807665 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000122209 SCV001925848 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000122209 SCV001976353 benign not specified no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000034646 SCV002036517 likely benign not provided no assertion criteria provided clinical testing

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