ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1352G>A (p.Arg451Lys)

gnomAD frequency: 0.00001  dbSNP: rs749780677
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000802374 SCV000942201 benign Tuberous sclerosis 2 2023-12-13 criteria provided, single submitter clinical testing
GeneDx RCV000827504 SCV000969155 likely benign not provided 2018-05-24 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genome-Nilou Lab RCV000802374 SCV002039537 likely benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002386431 SCV002693109 uncertain significance Hereditary cancer-predisposing syndrome 2021-05-03 criteria provided, single submitter clinical testing The p.R451K variant (also known as c.1352G>A), located in coding exon 12 of the TSC2 gene, results from a G to A substitution at nucleotide position 1352. The arginine at codon 451 is replaced by lysine, an amino acid with highly similar properties. 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.

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