ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3293C>G (p.Pro1098Arg)

dbSNP: rs773545852
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000544493 SCV000644417 likely benign Tuberous sclerosis 2 2023-12-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV002316560 SCV000851628 uncertain significance Hereditary cancer-predisposing syndrome 2023-07-12 criteria provided, single submitter clinical testing The p.P1098R variant (also known as c.3293C>G), located in coding exon 28 of the TSC2 gene, results from a C to G substitution at nucleotide position 3293. The proline at codon 1098 is replaced by arginine, an amino acid with dissimilar 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 RCV000544493 SCV002039730 likely benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing

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