ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.5378G>C (p.Arg1793Pro)

dbSNP: rs45506695
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000704570 SCV000833523 uncertain significance Tuberous sclerosis 2 2023-04-06 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). 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: 580896). This variant has not been reported in the literature in individuals affected with TSC2-related conditions. This sequence change replaces arginine, which is basic and polar, with proline, which is neutral and non-polar, at codon 1793 of the TSC2 protein (p.Arg1793Pro).

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