ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.3172C>A (p.Pro1058Thr)

gnomAD frequency: 0.00002  dbSNP: rs112066743
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000551227 SCV000641627 benign Tuberous sclerosis 1 2025-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001578209 SCV001805754 likely benign not provided 2020-06-08 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Genome-Nilou Lab RCV000551227 SCV002040336 benign Tuberous sclerosis 1 2021-11-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002256369 SCV002531432 uncertain significance Hereditary cancer-predisposing syndrome 2021-05-30 criteria provided, single submitter curation
Ambry Genetics RCV002256369 SCV002609715 likely benign Hereditary cancer-predisposing syndrome 2022-11-04 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 RCV003999218 SCV004826340 uncertain significance Tuberous sclerosis syndrome 2023-06-28 criteria provided, single submitter clinical testing

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