ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.2485A>C (p.Ser829Arg)

gnomAD frequency: 0.00001  dbSNP: rs118203699
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000464791 SCV000552367 benign Tuberous sclerosis 1 2025-01-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV000576111 SCV000664659 likely benign Hereditary cancer-predisposing syndrome 2018-05-14 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 RCV001539406 SCV001757181 likely benign not provided 2020-10-23 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 31875159, 12705356, 10607950)
Genome-Nilou Lab RCV000464791 SCV002040381 benign Tuberous sclerosis 1 2021-11-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000576111 SCV002528869 likely benign Hereditary cancer-predisposing syndrome 2021-10-18 criteria provided, single submitter curation
Myriad Genetics, Inc. RCV000464791 SCV005406283 likely benign Tuberous sclerosis 1 2024-08-13 criteria provided, single submitter clinical testing This variant is considered likely benign. This variant has been observed at a population frequency that is significantly greater than expected given the associated disease prevalence and penetrance.
CeGaT Center for Human Genetics Tuebingen RCV001539406 SCV005431761 likely benign not provided 2024-11-01 criteria provided, single submitter clinical testing TSC1: BS1
Tuberous sclerosis database (TSC1) RCV000042213 SCV000065999 not provided Tuberous sclerosis syndrome no assertion provided curation

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