ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1753C>T (p.Arg585Cys)

gnomAD frequency: 0.00003  dbSNP: rs370324876
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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 RCV000469836 SCV000544402 likely benign Tuberous sclerosis 2 2024-12-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV001013015 SCV001173545 likely benign Hereditary cancer-predisposing syndrome 2022-02-09 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.
Genome-Nilou Lab RCV000469836 SCV002039574 likely benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV001013015 SCV002530996 uncertain significance Hereditary cancer-predisposing syndrome 2021-04-03 criteria provided, single submitter curation
GeneDx RCV002274032 SCV002559342 uncertain significance not provided 2022-08-04 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
All of Us Research Program, National Institutes of Health RCV004000695 SCV004819311 uncertain significance Tuberous sclerosis syndrome 2024-05-14 criteria provided, single submitter clinical testing This missense variant replaces arginine with cysteine at codon 585 of the TSC2 protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with tuberous sclerosis complex in the literature. This variant has been identified in 3/282266 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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