ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4911G>A (p.Lys1637=)

gnomAD frequency: 0.00077  dbSNP: rs35282988
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Total submissions: 15
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000125693 SCV000169157 benign not specified 2013-10-31 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 RCV000163430 SCV000213976 likely benign Hereditary cancer-predisposing syndrome 2015-01-16 criteria provided, single submitter clinical testing This alteration is classified as likely 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.
Invitae RCV000227843 SCV000285428 benign Tuberous sclerosis 2 2024-02-01 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000125693 SCV000597593 uncertain significance not specified 2015-08-19 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000227843 SCV000677552 benign Tuberous sclerosis 2 2017-05-24 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000125693 SCV000703134 likely benign not specified 2016-11-17 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000042591 SCV001279946 likely 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Genome-Nilou Lab RCV000227843 SCV002040232 benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001579733 SCV002822241 likely benign not provided 2024-05-01 criteria provided, single submitter clinical testing TSC2: BP4, BS2
Color Diagnostics, LLC DBA Color Health RCV000227843 SCV004360927 benign Tuberous sclerosis 2 2022-09-20 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001579733 SCV004562420 likely benign not provided 2023-08-17 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV000042591 SCV004817504 benign Tuberous sclerosis syndrome 2024-02-05 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000042591 SCV000066385 not provided Tuberous sclerosis syndrome no assertion provided curation
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001579733 SCV001808326 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000125693 SCV001921141 benign not specified no assertion criteria provided clinical testing

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