ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1823G>C (p.Ser608Thr)

gnomAD frequency: 0.00001  dbSNP: rs753235037
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000644072 SCV000765762 benign Tuberous sclerosis 2 2023-07-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV001013270 SCV001173837 uncertain significance Hereditary cancer-predisposing syndrome 2019-03-08 criteria provided, single submitter clinical testing The p.S608T variant (also known as c.1823G>C), located in coding exon 16 of the TSC2 gene, results from a G to C substitution at nucleotide position 1823. The serine at codon 608 is replaced by threonine, an amino acid with similar properties. This amino acid position is well 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.
Genome-Nilou Lab RCV000644072 SCV002040643 uncertain significance Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing

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