ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2384G>A (p.Gly795Asp)

dbSNP: rs1555507503
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000644064 SCV000765754 uncertain significance Tuberous sclerosis 2 2022-10-13 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on TSC2 protein function. ClinVar contains an entry for this variant (Variation ID: 535855). 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 glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 795 of the TSC2 protein (p.Gly795Asp).
Ambry Genetics RCV002458078 SCV002737057 uncertain significance Hereditary cancer-predisposing syndrome 2020-10-29 criteria provided, single submitter clinical testing The p.G795D variant (also known as c.2384G>A), located in coding exon 21 of the TSC2 gene, results from a G to A substitution at nucleotide position 2384. The glycine at codon 795 is replaced by aspartic acid, an amino acid with similar properties. This amino acid position is highly 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.

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