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: 7
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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
Labcorp Genetics (formerly Invitae), Labcorp RCV000460950 SCV000556577 benign Tuberous sclerosis 2 2025-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001200212 SCV001371112 likely benign not provided 2024-05-01 criteria provided, single submitter clinical testing TSC2: BP4, BP7
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: 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.
All of Us Research Program, National Institutes of Health RCV004000557 SCV004821614 benign Tuberous sclerosis syndrome 2024-01-11 criteria provided, single submitter clinical testing

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