ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2369A>G (p.Tyr790Cys)

dbSNP: rs1555507478
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000558201 SCV000644341 uncertain significance Tuberous sclerosis 2 2022-09-20 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt TSC2 protein function. ClinVar contains an entry for this variant (Variation ID: 467939). This variant has not been reported in the literature in individuals affected with TSC2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 790 of the TSC2 protein (p.Tyr790Cys).
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000785059 SCV000923614 uncertain significance not specified 2019-01-01 criteria provided, single submitter clinical testing
GeneDx RCV001770441 SCV002003339 uncertain significance not provided 2020-01-22 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Genome-Nilou Lab RCV000558201 SCV002040698 uncertain significance Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing

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