ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.1369A>C (p.Ser457Arg)

gnomAD frequency: 0.00001  dbSNP: rs587778722
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001704038 SCV000521665 likely benign not provided 2018-10-15 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 24728327)
Labcorp Genetics (formerly Invitae), Labcorp RCV000475364 SCV000552257 benign Tuberous sclerosis 1 2024-01-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV000562597 SCV000675427 benign Hereditary cancer-predisposing syndrome 2022-04-06 criteria provided, single submitter clinical testing This alteration is classified as 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.
Genome-Nilou Lab RCV000475364 SCV002040108 likely benign Tuberous sclerosis 1 2021-11-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000562597 SCV002530904 likely benign Hereditary cancer-predisposing syndrome 2021-12-22 criteria provided, single submitter curation
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University RCV003153402 SCV003843513 benign Ovarian cancer 2022-01-01 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003997359 SCV004814305 uncertain significance Tuberous sclerosis syndrome 2023-06-28 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV000475364 SCV005404711 likely benign Tuberous sclerosis 1 2024-08-08 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.
ITMI RCV000122188 SCV000086405 not provided not specified 2013-09-19 no assertion provided reference population

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