ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2296G>A (p.Val766Met)

gnomAD frequency: 0.00041  dbSNP: rs150672640
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000234604 SCV000285287 benign Tuberous sclerosis 2 2024-01-25 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000392158 SCV000395606 uncertain significance Tuberous sclerosis syndrome 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001697576 SCV000528271 benign not provided 2019-10-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000574918 SCV000675504 likely benign Hereditary cancer-predisposing syndrome 2018-06-25 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 RCV000234604 SCV002039639 benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000574918 SCV002531057 likely benign Hereditary cancer-predisposing syndrome 2021-04-06 criteria provided, single submitter curation
PreventionGenetics, part of Exact Sciences RCV004532844 SCV004735605 likely benign TSC2-related disorder 2022-03-12 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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