ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3374G>A (p.Arg1125Gln)

gnomAD frequency: 0.00001  dbSNP: rs796053475
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001705069 SCV000243577 likely benign not provided 2020-10-27 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 26563443)
Invitae RCV000542085 SCV000644434 benign Tuberous sclerosis 2 2023-10-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV001020126 SCV001181563 likely benign Hereditary cancer-predisposing syndrome 2022-12-12 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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 RCV000542085 SCV002039740 likely benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing

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