ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3233G>A (p.Arg1078Gln)

gnomAD frequency: 0.00002  dbSNP: rs368095502
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000457622 SCV000544463 benign Tuberous sclerosis 2 2023-12-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002446790 SCV002611737 uncertain significance Hereditary cancer-predisposing syndrome 2022-06-14 criteria provided, single submitter clinical testing The p.R1078Q variant (also known as c.3233G>A), located in coding exon 27 of the TSC2 gene, results from a G to A substitution at nucleotide position 3233. The arginine at codon 1078 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species, and glutamine is the reference amino acid in other 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.

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