ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4869C>T (p.Thr1623=)

gnomAD frequency: 0.00041  dbSNP: rs150239180
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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 RCV000227246 SCV000285425 benign Tuberous sclerosis 2 2024-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000570864 SCV000675512 likely benign Hereditary cancer-predisposing syndrome 2014-11-21 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 RCV001596996 SCV001830429 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000227246 SCV002039867 benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000570864 SCV002533982 benign Hereditary cancer-predisposing syndrome 2021-08-24 criteria provided, single submitter curation
Color Diagnostics, LLC DBA Color Health RCV000227246 SCV004360925 benign Tuberous sclerosis 2 2022-10-20 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003998835 SCV004823520 benign Tuberous sclerosis syndrome 2024-02-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004541376 SCV004759303 likely benign TSC2-related disorder 2019-10-10 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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