ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.343C>T (p.Arg115Cys)

dbSNP: rs1256047792
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000802000 SCV000941806 benign Tuberous sclerosis 2 2023-07-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV003307466 SCV003988654 uncertain significance Hereditary cancer-predisposing syndrome 2023-06-10 criteria provided, single submitter clinical testing The p.R115C variant (also known as c.343C>T), located in coding exon 4 of the TSC2 gene, results from a C to T substitution at nucleotide position 343. The arginine at codon 115 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is conserved. 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.

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