ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.3115A>C (p.Ser1039Arg)

dbSNP: rs1490199228
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001069522 SCV001234695 likely benign Tuberous sclerosis 1 2023-08-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002320347 SCV002607865 uncertain significance Hereditary cancer-predisposing syndrome 2022-02-02 criteria provided, single submitter clinical testing The p.S1039R variant (also known as c.3115A>C), located in coding exon 21 of the TSC1 gene, results from an A to C substitution at nucleotide position 3115. The serine at codon 1039 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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