ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3270C>T (p.Ser1090=)

gnomAD frequency: 0.00002  dbSNP: rs754951889
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001080374 SCV000556678 benign Tuberous sclerosis 2 2024-01-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV000568480 SCV000675577 likely benign Hereditary cancer-predisposing syndrome 2016-11-16 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.
Eurofins Ntd Llc (ga) RCV000729893 SCV000857589 uncertain significance not provided 2017-10-30 criteria provided, single submitter clinical testing
GeneDx RCV000729893 SCV001896591 benign not provided 2015-03-26 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001080374 SCV002039725 benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000568480 SCV002533378 likely benign Hereditary cancer-predisposing syndrome 2021-12-21 criteria provided, single submitter curation
All of Us Research Program, National Institutes of Health RCV004002105 SCV004819142 likely benign Tuberous sclerosis syndrome 2023-12-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004539994 SCV004774901 likely benign TSC2-related disorder 2019-12-06 no assertion criteria provided 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).

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