ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2386C>G (p.Leu796Val)

dbSNP: rs1596356291
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000805175 SCV000945122 uncertain significance Tuberous sclerosis 2 2022-11-09 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt TSC2 protein function. ClinVar contains an entry for this variant (Variation ID: 650089). This variant has not been reported in the literature in individuals affected with TSC2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 796 of the TSC2 protein (p.Leu796Val).
Ambry Genetics RCV002453794 SCV002737064 uncertain significance Hereditary cancer-predisposing syndrome 2022-01-08 criteria provided, single submitter clinical testing The p.L796V variant (also known as c.2386C>G), located in coding exon 21 of the TSC2 gene, results from a C to G substitution at nucleotide position 2386. The leucine at codon 796 is replaced by valine, an amino acid with highly similar properties. This amino acid position is conserved. 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.
Fulgent Genetics, Fulgent Genetics RCV002487724 SCV002790476 uncertain significance Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2 2021-10-12 criteria provided, single submitter clinical testing

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