ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.167A>G (p.Asn56Ser)

gnomAD frequency: 0.00021  dbSNP: rs144165984
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001704075 SCV000243681 benign not provided 2019-05-20 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 30564305, 18386375, 25637381)
Invitae RCV000226143 SCV000285256 benign Tuberous sclerosis 2 2024-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000571093 SCV000664744 likely benign Hereditary cancer-predisposing syndrome 2018-09-11 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 RCV000226143 SCV002041188 benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000571093 SCV002530985 likely benign Hereditary cancer-predisposing syndrome 2021-09-05 criteria provided, single submitter curation
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University RCV003153433 SCV003843794 likely pathogenic Ovarian cancer 2022-01-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004544347 SCV004761692 likely benign TSC2-related disorder 2022-11-01 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
CSER _CC_NCGL, University of Washington RCV000148918 SCV000190671 uncertain significance Tuberous sclerosis syndrome 2014-06-01 no assertion criteria provided research

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