ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.5389A>C (p.Ile1797Leu)

gnomAD frequency: 0.00001  dbSNP: rs796053479
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000189951 SCV000243619 likely benign not specified 2014-01-20 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000696799 SCV000825378 benign Tuberous sclerosis 2 2025-01-20 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000696799 SCV002040298 likely benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002345683 SCV002643425 uncertain significance Hereditary cancer-predisposing syndrome 2023-03-03 criteria provided, single submitter clinical testing The p.I1797L variant (also known as c.5389A>C), located in coding exon 41 of the TSC2 gene, results from an A to C substitution at nucleotide position 5389. The isoleucine at codon 1797 is replaced by leucine, an amino acid with highly similar properties. This amino acid position is not well conserved in available 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.
Baylor Genetics RCV004567389 SCV005054461 uncertain significance Isolated focal cortical dysplasia type II 2024-02-14 criteria provided, single submitter clinical testing

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