ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.223G>A (p.Glu75Lys)

gnomAD frequency: 0.00013  dbSNP: rs145470784
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000460205 SCV000243687 benign not provided 2020-02-11 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27153395, 19254590, 25637381, 29655203)
Invitae RCV001086061 SCV000544309 benign Tuberous sclerosis 2 2024-01-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV000561674 SCV000675507 likely benign Hereditary cancer-predisposing syndrome 2018-06-21 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.
CeGaT Center for Human Genetics Tuebingen RCV000460205 SCV001156189 likely benign not provided 2023-08-01 criteria provided, single submitter clinical testing TSC2: BP1, BS2
Genome-Nilou Lab RCV001086061 SCV002041190 benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000561674 SCV002531048 likely benign Hereditary cancer-predisposing syndrome 2021-05-28 criteria provided, single submitter curation
PreventionGenetics, part of Exact Sciences RCV003905280 SCV004718370 likely benign TSC2-related condition 2023-03-13 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 RCV000148919 SCV000190675 uncertain significance Tuberous sclerosis syndrome 2014-06-01 no assertion criteria provided research

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