ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.5028G>A (p.Leu1676=)

gnomAD frequency: 0.00026  dbSNP: rs45475501
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Total submissions: 15
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163968 SCV000214568 likely benign Hereditary cancer-predisposing syndrome 2014-12-15 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.
GeneDx RCV000189939 SCV000243606 benign not specified 2014-07-21 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.
Invitae RCV000234249 SCV000285433 benign Tuberous sclerosis 2 2024-01-31 criteria provided, single submitter clinical testing
Preventiongenetics, part of Exact Sciences RCV000189939 SCV000305237 likely benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000189939 SCV000341743 likely benign not specified 2016-06-06 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000043272 SCV000395671 likely benign Tuberous sclerosis syndrome 2016-06-14 criteria provided, single submitter clinical testing
Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University RCV000234249 SCV001430725 likely benign Tuberous sclerosis 2 2020-07-10 criteria provided, single submitter clinical testing
Baylor Genetics RCV000234249 SCV001528545 uncertain significance Tuberous sclerosis 2 2018-01-18 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Genome-Nilou Lab RCV000234249 SCV002040244 benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000163968 SCV002534005 benign Hereditary cancer-predisposing syndrome 2021-03-05 criteria provided, single submitter curation
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000189939 SCV003844220 benign not specified 2023-02-25 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV000234249 SCV004016142 benign Tuberous sclerosis 2 2023-07-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003390737 SCV004129878 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing TSC2: BP4, BP7, BS1
Color Diagnostics, LLC DBA Color Health RCV000234249 SCV004360931 benign Tuberous sclerosis 2 2022-09-30 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000043272 SCV000067074 not provided Tuberous sclerosis syndrome no assertion provided curation

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