ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2073C>T (p.Arg691=)

gnomAD frequency: 0.00043  dbSNP: rs45512398
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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000125659 SCV000169121 benign not specified 2014-05-27 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV000163440 SCV000213987 likely benign Hereditary cancer-predisposing syndrome 2014-11-24 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.
Invitae RCV000233055 SCV000285275 benign Tuberous sclerosis 2 2024-01-28 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000042980 SCV000395602 benign Tuberous sclerosis syndrome 2018-01-12 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.
Genome-Nilou Lab RCV000233055 SCV002041431 benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000163440 SCV002531033 benign Hereditary cancer-predisposing syndrome 2020-10-23 criteria provided, single submitter curation
CeGaT Center for Human Genetics Tuebingen RCV002262602 SCV002545711 benign not provided 2023-10-01 criteria provided, single submitter clinical testing TSC2: BP4, BP7, BS1, BS2
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV000233055 SCV004016158 benign Tuberous sclerosis 2 2023-07-07 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV002262602 SCV004221413 benign not provided 2022-10-06 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000233055 SCV004360877 benign Tuberous sclerosis 2 2022-09-23 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000042980 SCV000066777 not provided Tuberous sclerosis syndrome no assertion provided curation
Clinical Genetics, Academic Medical Center RCV000125659 SCV001919736 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000125659 SCV001969193 benign not specified no assertion criteria provided clinical testing

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