ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1973A>C (p.Lys658Thr)

gnomAD frequency: 0.00022  dbSNP: rs397515223
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001703965 SCV000243664 likely benign not provided 2021-05-20 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 24728327, 22903760, 23514105, 21309039)
Invitae RCV000234257 SCV000285264 benign Tuberous sclerosis 2 2024-02-01 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000055529 SCV000395597 uncertain significance Tuberous sclerosis syndrome 2016-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000564486 SCV000675536 likely benign Hereditary cancer-predisposing syndrome 2019-03-29 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.
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV001703965 SCV002011349 likely benign not provided 2021-11-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000234257 SCV002039600 likely benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000564486 SCV002531023 likely benign Hereditary cancer-predisposing syndrome 2021-04-22 criteria provided, single submitter curation
CeGaT Center for Human Genetics Tuebingen RCV001703965 SCV004010421 benign not provided 2023-04-01 criteria provided, single submitter clinical testing TSC2: BS3:Supporting, BS1, BS2
Tuberous sclerosis database (TSC2) RCV000055529 SCV000083752 not provided Tuberous sclerosis syndrome no assertion provided curation
ITMI RCV000122212 SCV000086433 not provided not specified 2013-09-19 no assertion provided reference population

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