ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1754G>A (p.Arg585His)

gnomAD frequency: 0.00001  dbSNP: rs397515063
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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 RCV000544349 SCV000644277 likely benign Tuberous sclerosis 2 2024-10-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV000567865 SCV000675597 likely benign Hereditary cancer-predisposing syndrome 2021-01-28 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 RCV000544349 SCV002039575 likely benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000567865 SCV002530997 uncertain significance Hereditary cancer-predisposing syndrome 2022-02-07 criteria provided, single submitter curation
Revvity Omics, Revvity RCV000544349 SCV004236979 uncertain significance Tuberous sclerosis 2 2023-06-20 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV000055294 SCV004819312 uncertain significance Tuberous sclerosis syndrome 2023-08-15 criteria provided, single submitter clinical testing This missense variant replaces arginine with histidine at codon 585 of the TSC2 protein. Computational prediction suggests that this variant may have deleterious impact on protein structure and function (internally defined REVEL score threshold >= 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant was reported in an individual affected with tuberous sclerosis complex (PMID: 22490766). This variant has been identified in 8/250840 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.
Myriad Genetics, Inc. RCV000544349 SCV005083360 likely benign Tuberous sclerosis 2 2024-06-24 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.
Tuberous sclerosis database (TSC2) RCV000055294 SCV000083514 not provided Tuberous sclerosis syndrome no assertion provided curation

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