ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.431A>G (p.Lys144Arg)

gnomAD frequency: 0.00003  dbSNP: rs769286175
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000189958 SCV000243629 likely benign not specified 2017-11-17 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.
Invitae RCV000229518 SCV000285397 benign Tuberous sclerosis 2 2023-12-06 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000229518 SCV002041220 benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002327021 SCV002633229 uncertain significance Hereditary cancer-predisposing syndrome 2020-04-08 criteria provided, single submitter clinical testing The p.K144R variant (also known as c.431A>G), located in coding exon 4 of the TSC2 gene, results from an A to G substitution at nucleotide position 431. The lysine at codon 144 is replaced by arginine, 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.

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