ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1093A>G (p.Ile365Val)

gnomAD frequency: 0.00002  dbSNP: rs370403197
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000493232 SCV000582128 likely benign not provided 2019-05-03 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV001064683 SCV001229596 benign Tuberous sclerosis 2 2023-11-20 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001064683 SCV002041127 likely benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002431439 SCV002731868 uncertain significance Hereditary cancer-predisposing syndrome 2022-01-08 criteria provided, single submitter clinical testing The p.I365V variant (also known as c.1093A>G), located in coding exon 10 of the TSC2 gene, results from an A to G substitution at nucleotide position 1093. The isoleucine at codon 365 is replaced by valine, 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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