ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3102C>G (p.Val1034=)

dbSNP: rs562998574
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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 RCV000228234 SCV000285331 benign Tuberous sclerosis 2 2024-01-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV000563194 SCV000675625 likely benign Hereditary cancer-predisposing syndrome 2016-07-18 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 RCV001545292 SCV001764598 likely benign not provided 2018-10-16 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000228234 SCV002039287 benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000563194 SCV002533366 likely benign Hereditary cancer-predisposing syndrome 2020-09-16 criteria provided, single submitter curation
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV000228234 SCV004016164 likely benign Tuberous sclerosis 2 2023-07-07 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003998819 SCV004815062 benign Tuberous sclerosis syndrome 2023-12-13 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001545292 SCV005216994 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV004532847 SCV004714190 likely benign TSC2-related disorder 2023-12-15 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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