ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3762G>A (p.Ser1254=)

gnomAD frequency: 0.00006  dbSNP: rs144891432
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000233484 SCV000285364 benign Tuberous sclerosis 2 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001722214 SCV000515040 likely benign not provided 2019-01-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV001021078 SCV001182648 likely benign Hereditary cancer-predisposing syndrome 2015-03-30 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 RCV000233484 SCV002039371 benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV001021078 SCV002533449 benign Hereditary cancer-predisposing syndrome 2020-10-22 criteria provided, single submitter curation
Fulgent Genetics, Fulgent Genetics RCV002487049 SCV002796679 likely benign Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2 2021-09-07 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000233484 SCV004360905 likely benign Tuberous sclerosis 2 2022-10-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004532848 SCV004735304 likely benign TSC2-related disorder 2022-06-16 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).

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