ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.5330C>G (p.Pro1777Arg)

dbSNP: rs1555441353
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000644110 SCV000765800 uncertain significance Tuberous sclerosis 2 2021-09-10 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with TSC2-related conditions. This sequence change replaces proline with arginine at codon 1777 of the TSC2 protein (p.Pro1777Arg). The proline residue is weakly conserved and there is a moderate physicochemical difference between proline and arginine.

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