ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.5330C>A (p.Pro1777His)

dbSNP: rs1555441353
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001091867 SCV001248126 uncertain significance not provided 2019-12-01 criteria provided, single submitter clinical testing
Invitae RCV002554839 SCV003202312 uncertain significance Tuberous sclerosis 2 2023-03-12 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with histidine, which is basic and polar, at codon 1777 of the TSC2 protein (p.Pro1777His). 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: 871743). 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).

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