ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4376G>A (p.Arg1459Gln)

dbSNP: rs1555514409
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000573101 SCV000675492 uncertain significance Hereditary cancer-predisposing syndrome 2020-01-07 criteria provided, single submitter clinical testing The p.R1459Q variant (also known as c.4376G>A), located in coding exon 33 of the TSC2 gene, results from a G to A substitution at nucleotide position 4376. The arginine at codon 1459 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is highly 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 RCV001235215 SCV001407891 uncertain significance Tuberous sclerosis 2 2023-04-04 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt TSC2 protein function. ClinVar contains an entry for this variant (Variation ID: 486601). This variant has not been reported in the literature in individuals affected with TSC2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 1459 of the TSC2 protein (p.Arg1459Gln).
Genome-Nilou Lab RCV001235215 SCV002040825 uncertain significance Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing

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