ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2153G>A (p.Arg718His)

dbSNP: rs45517215
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000166299 SCV000217083 uncertain significance Hereditary cancer-predisposing syndrome 2023-07-13 criteria provided, single submitter clinical testing The p.R718H variant (also known as c.2153G>A), located in coding exon 19 of the TSC2 gene, results from a G to A substitution at nucleotide position 2153. The arginine at codon 718 is replaced by histidine, an amino acid with highly similar properties. This alteration was identified in 1/1358 non-cancer control individuals and in 0/57 cases, in a study looking at cancer predisposition mutations in patients with cutaneous melanoma and a history of at least two additional non-cutaneous melanoma primary cancers (Pritchard AL et al. PLoS One, 2018 Apr;13:e0194098). This amino acid position is not 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.
Invitae RCV000469825 SCV000544419 likely benign Tuberous sclerosis 2 2023-12-31 criteria provided, single submitter clinical testing
GeneDx RCV001589035 SCV001825876 likely benign not provided 2020-11-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000469825 SCV002039624 likely benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing

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