ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3718C>T (p.Arg1240Cys)

gnomAD frequency: 0.00001  dbSNP: rs137854353
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000537246 SCV000644468 likely benign Tuberous sclerosis 2 2023-03-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV003162359 SCV003911443 uncertain significance Hereditary cancer-predisposing syndrome 2022-11-09 criteria provided, single submitter clinical testing The p.R1240C variant (also known as c.3718C>T), located in coding exon 30 of the TSC2 gene, results from a C to T substitution at nucleotide position 3718. The arginine at codon 1240 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is well 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.
Tuberous sclerosis database (TSC2) RCV000043283 SCV000067085 not provided Tuberous sclerosis syndrome no assertion provided curation

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