ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2392C>T (p.His798Tyr)

gnomAD frequency: 0.00004  dbSNP: rs375809212
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000475414 SCV000544354 benign Tuberous sclerosis 2 2024-01-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV000571641 SCV000675552 likely benign Hereditary cancer-predisposing syndrome 2018-11-15 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 RCV001712416 SCV000714863 likely benign not provided 2021-06-23 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27723760, 29500070)
Genome-Nilou Lab RCV000475414 SCV002041465 benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003912797 SCV004732706 likely benign TSC2-related condition 2023-05-24 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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