ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.2431C>G (p.Arg811Gly) (rs397514814)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000641963 SCV000763615 uncertain significance Tuberous sclerosis 1 2017-10-23 criteria provided, single submitter clinical testing This sequence change replaces arginine with glycine at codon 811 of the TSC1 protein (p.Arg811Gly). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and glycine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with TSC1-related disease. ClinVar contains an entry for this variant (Variation ID: 64757). Experimental studies have shown that this missense change does not affect expression or localization of the TSC1 protein and has no effect on downstream phosphorylation by TORC1 (PMID: 22161988). 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.
Tuberous sclerosis database (TSC1) RCV000054939 SCV000083155 not provided Tuberous sclerosis syndrome no assertion provided curation

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