ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.193T>C (p.Cys65Arg)

gnomAD frequency: 0.00001  dbSNP: rs1060500965
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000459248 SCV000544535 benign Tuberous sclerosis 2 2023-02-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002411435 SCV002719285 uncertain significance Hereditary cancer-predisposing syndrome 2023-07-11 criteria provided, single submitter clinical testing The p.C65R variant (also known as c.193T>C), located in coding exon 2 of the TSC2 gene, results from a T to C substitution at nucleotide position 193. The cysteine at codon 65 is replaced by arginine, an amino acid with highly dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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