ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4739G>A (p.Arg1580Gln)

gnomAD frequency: 0.00001  dbSNP: rs1371745883
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001037835 SCV001201267 benign Tuberous sclerosis 2 2024-01-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002337101 SCV002635940 uncertain significance Hereditary cancer-predisposing syndrome 2023-07-01 criteria provided, single submitter clinical testing The p.R1580Q variant (also known as c.4739G>A), located in coding exon 36 of the TSC2 gene, results from a G to A substitution at nucleotide position 4739. The arginine at codon 1580 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is poorly 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.

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