ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2039G>T (p.Arg680Leu)

dbSNP: rs756536921
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000644230 SCV000765921 likely benign Tuberous sclerosis 2 2024-01-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV001014160 SCV001174840 uncertain significance Hereditary cancer-predisposing syndrome 2021-11-04 criteria provided, single submitter clinical testing The p.R680L variant (also known as c.2039G>T), located in coding exon 18 of the TSC2 gene, results from a G to T substitution at nucleotide position 2039. The arginine at codon 680 is replaced by leucine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV000644230 SCV002039611 likely benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
GeneDx RCV002282289 SCV002571695 uncertain significance not provided 2023-09-06 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
Baylor Genetics RCV003459538 SCV004205073 uncertain significance Isolated focal cortical dysplasia type II 2023-06-06 criteria provided, single submitter clinical testing

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