ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1553G>T (p.Gly518Val)

dbSNP: rs1229407025
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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 RCV001012096 SCV001172509 uncertain significance Hereditary cancer-predisposing syndrome 2018-12-04 criteria provided, single submitter clinical testing The p.G518V variant (also known as c.1553G>T), located in coding exon 14 of the TSC2 gene, results from a G to T substitution at nucleotide position 1553. The glycine at codon 518 is replaced by valine, 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 RCV001056422 SCV001220865 benign Tuberous sclerosis 2 2023-07-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001056422 SCV002040617 uncertain significance Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing

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