ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4430G>A (p.Arg1477Lys)

gnomAD frequency: 0.00001  dbSNP: rs752693719
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000701877 SCV000830700 benign Tuberous sclerosis 2 2023-05-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002332482 SCV002631280 uncertain significance Hereditary cancer-predisposing syndrome 2022-09-03 criteria provided, single submitter clinical testing The p.R1477K variant (also known as c.4430G>A), located in coding exon 33 of the TSC2 gene, results from a G to A substitution at nucleotide position 4430. The arginine at codon 1477 is replaced by lysine, an amino acid with highly similar properties. This amino acid position is conserved. 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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