ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3585G>A (p.Ala1195=)

gnomAD frequency: 0.00003  dbSNP: rs761232933
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001080272 SCV000644454 benign Tuberous sclerosis 2 2024-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000833206 SCV000974967 likely benign not provided 2018-06-19 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genome-Nilou Lab RCV001080272 SCV002039342 benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002256375 SCV002533424 likely benign Hereditary cancer-predisposing syndrome 2021-01-01 criteria provided, single submitter curation
Ambry Genetics RCV002256375 SCV002618156 likely benign Hereditary cancer-predisposing syndrome 2020-02-27 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.
All of Us Research Program, National Institutes of Health RCV003999293 SCV004833425 likely benign Tuberous sclerosis syndrome 2023-12-13 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004735615 SCV005356975 likely benign TSC2-related disorder 2024-06-25 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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