ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.718A>G (p.Ile240Val)

dbSNP: rs796053482
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000801305 SCV000941076 benign Tuberous sclerosis 2 2025-01-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV002372160 SCV002672302 uncertain significance Hereditary cancer-predisposing syndrome 2023-04-14 criteria provided, single submitter clinical testing The p.I240V variant (also known as c.718A>G), located in coding exon 7 of the TSC2 gene, results from an A to G substitution at nucleotide position 718. The isoleucine at codon 240 is replaced by valine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species; however, valine is the reference amino acid in other vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
All of Us Research Program, National Institutes of Health RCV003996879 SCV004817009 uncertain significance Tuberous sclerosis syndrome 2023-08-15 criteria provided, single submitter clinical testing This missense variant replaces isoleucine with valine at codon 240 of the TSC2 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with tuberous sclerosis complex in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Baylor Genetics RCV004567390 SCV005054483 uncertain significance Isolated focal cortical dysplasia type II 2023-12-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005016537 SCV005644946 uncertain significance Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2 2023-12-27 criteria provided, single submitter clinical testing

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