ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4030G>A (p.Glu1344Lys)

gnomAD frequency: 0.00002  dbSNP: rs397515035
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000713931 SCV000243699 likely benign not provided 2020-01-13 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 28492532)
Invitae RCV001087396 SCV000644500 likely benign Tuberous sclerosis 2 2024-01-16 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000713931 SCV000844578 uncertain significance not provided 2017-09-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001087396 SCV002039812 likely benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002257482 SCV002533487 uncertain significance Hereditary cancer-predisposing syndrome 2022-01-12 criteria provided, single submitter curation
Ambry Genetics RCV002257482 SCV002619747 uncertain significance Hereditary cancer-predisposing syndrome 2021-12-07 criteria provided, single submitter clinical testing The p.E1344K variant (also known as c.4030G>A), located in coding exon 33 of the TSC2 gene, results from a G to A substitution at nucleotide position 4030. The glutamic acid at codon 1344 is replaced by lysine, an amino acid with similar properties. This amino acid position is 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000713931 SCV004221450 uncertain significance not provided 2017-09-15 criteria provided, single submitter clinical testing To the best of our knowledge, this variant has not been reported in the published literature. The frequency of this variant in the general population, 0.000089 (3/33570 chromosomes in Latino/Admixed American subpopulation (Genome Aggregation Database, http://gnomad.broadinstitute.org)), is higher than would generally be expected for pathogenic variants in this gene. Analysis of this variant using bioinformatics tools for the prediction of the effect of amino acid changes on protein structure and function yielded conflicting predictions that this variant is benign or damaging. Based on the available information, we are unable to determine the clinical significance of this variant.

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