ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1946T>C (p.Met649Thr)

gnomAD frequency: 0.00116  dbSNP: rs45490792
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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000122211 SCV000226740 likely benign not specified 2015-01-28 criteria provided, single submitter clinical testing
GeneDx RCV001703940 SCV000243555 benign not provided 2019-07-24 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 24728327, 22903760, 23514105)
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000202889 SCV000257718 likely benign Tuberous sclerosis 2 2015-06-26 criteria provided, single submitter clinical testing
Invitae RCV000202889 SCV000285263 benign Tuberous sclerosis 2 2024-02-01 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000043458 SCV000395595 likely benign Tuberous sclerosis syndrome 2018-12-03 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Ambry Genetics RCV000574169 SCV000664693 likely benign Hereditary cancer-predisposing syndrome 2018-05-21 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001703940 SCV001472195 likely benign not provided 2023-11-28 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000202889 SCV002041410 benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000574169 SCV002531021 benign Hereditary cancer-predisposing syndrome 2021-02-13 criteria provided, single submitter curation
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV000202889 SCV004016109 benign Tuberous sclerosis 2 2023-07-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001703940 SCV004041956 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing TSC2: BP4, BS1
Tuberous sclerosis database (TSC2) RCV000043458 SCV000067268 not provided Tuberous sclerosis syndrome no assertion provided curation
ITMI RCV000122211 SCV000086432 not provided not specified 2013-09-19 no assertion provided reference population

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