ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3867G>C (p.Arg1289Ser)

dbSNP: rs1008733639
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001021319 SCV001182920 uncertain significance Hereditary cancer-predisposing syndrome 2018-06-19 criteria provided, single submitter clinical testing The p.R1289S variant (also known as c.3867G>C), located in coding exon 31 of the TSC2 gene, results from a G to C substitution at nucleotide position 3867. The arginine at codon 1289 is replaced by serine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. 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.
Invitae RCV001047548 SCV001211513 benign Tuberous sclerosis 2 2023-10-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001047548 SCV002040793 uncertain significance Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing

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