ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.704G>C (p.Ser235Thr)

dbSNP: rs397514957
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000562981 SCV000675770 uncertain significance Hereditary cancer-predisposing syndrome 2021-12-28 criteria provided, single submitter clinical testing The p.S235T variant (also known as c.704G>C), located in coding exon 7 of the TSC2 gene, results from a G to C substitution at nucleotide position 704. The serine at codon 235 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.
GeneDx RCV002466540 SCV002762234 uncertain significance not provided 2022-06-10 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 18466115)

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