ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.586G>A (p.Ala196Thr)

gnomAD frequency: 0.00003  dbSNP: rs45517113
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001719786 SCV000243634 likely benign not provided 2021-04-20 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 18302728, 21309039)
Labcorp Genetics (formerly Invitae), Labcorp RCV000473187 SCV000556610 benign Tuberous sclerosis 2 2024-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV001024627 SCV001186673 likely benign Hereditary cancer-predisposing syndrome 2021-11-04 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.
Genome-Nilou Lab RCV000473187 SCV002041080 likely benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV001024627 SCV002534078 likely benign Hereditary cancer-predisposing syndrome 2021-04-12 criteria provided, single submitter curation
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University RCV003153330 SCV003843719 likely pathogenic Ovarian cancer 2022-01-01 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV000043220 SCV004816984 benign Tuberous sclerosis syndrome 2023-10-30 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV000473187 SCV005404882 likely benign Tuberous sclerosis 2 2024-08-26 criteria provided, single submitter clinical testing This variant is considered likely benign. This variant has been observed at a population frequency that is significantly greater than expected given the associated disease prevalence and penetrance.
Tuberous sclerosis database (TSC2) RCV000043220 SCV000067021 not provided Tuberous sclerosis syndrome no assertion provided curation

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