ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2562G>A (p.Pro854=)

gnomAD frequency: 0.00001  dbSNP: rs779606786
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001200212 SCV000534169 likely benign not provided 2021-01-07 criteria provided, single submitter clinical testing
Invitae RCV000460950 SCV000556577 benign Tuberous sclerosis 2 2024-01-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000460950 SCV002039215 benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002256237 SCV002531088 likely benign Hereditary cancer-predisposing syndrome 2020-07-21 criteria provided, single submitter curation
Ambry Genetics RCV002256237 SCV002741661 likely benign Hereditary cancer-predisposing syndrome 2018-01-16 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.

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