ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.951A>G (p.Thr317=)

gnomAD frequency: 0.00001  dbSNP: rs767275578
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000575710 SCV000675666 likely benign Hereditary cancer-predisposing syndrome 2016-03-28 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000980767 SCV001128725 likely benign Tuberous sclerosis 2 2024-11-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000980767 SCV002041281 benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004001155 SCV004817050 likely benign Tuberous sclerosis syndrome 2023-06-27 criteria provided, single submitter clinical testing

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