ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1096G>A (p.Glu366Lys)

gnomAD frequency: 0.00003  dbSNP: rs45517148
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001721235 SCV000243646 likely benign not provided 2021-02-07 criteria provided, single submitter clinical testing
Invitae RCV000230966 SCV000285223 likely benign Tuberous sclerosis 2 2024-01-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV000568549 SCV000664612 uncertain significance Hereditary cancer-predisposing syndrome 2022-02-01 criteria provided, single submitter clinical testing The p.E366K variant (also known as c.1096G>A), located in coding exon 10 of the TSC2 gene, results from a G to A substitution at nucleotide position 1096. The glutamic acid at codon 366 is replaced by lysine, an amino acid with 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.
Illumina Laboratory Services, Illumina RCV001118951 SCV001277276 uncertain significance Tuberous sclerosis syndrome 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University RCV000230966 SCV001430720 uncertain significance Tuberous sclerosis 2 2020-07-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000230966 SCV002041129 likely benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing

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