ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1574A>G (p.Asn525Ser)

gnomAD frequency: 0.00004  dbSNP: rs45457694
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000228102 SCV000285248 benign Tuberous sclerosis 2 2025-02-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000248978 SCV000305151 likely benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000566826 SCV000664732 likely benign Hereditary cancer-predisposing syndrome 2018-06-25 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.
GeneDx RCV001719785 SCV000729184 likely benign not provided 2021-04-12 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 14993219, 24055113, 11208653, 15483652, 25637381, 25088526, 11741832, 21309039, 10533067)
Genome-Nilou Lab RCV000228102 SCV002041353 benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000566826 SCV002530968 likely benign Hereditary cancer-predisposing syndrome 2021-09-25 criteria provided, single submitter curation
Tuberous sclerosis database (TSC2) RCV000042943 SCV000066740 not provided Tuberous sclerosis syndrome no assertion provided curation
Tuberous sclerosis database (TSC2) RCV000055336 SCV000083556 not provided Lymphangiomyomatosis; Tuberous sclerosis syndrome no assertion provided curation
CSER _CC_NCGL, University of Washington RCV000042943 SCV000190666 uncertain significance Tuberous sclerosis syndrome 2014-06-01 no assertion criteria provided research

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