ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.610C>T (p.Arg204Cys) (rs1060505021)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000694777 SCV000823236 uncertain significance Tuberous sclerosis 1 2018-03-01 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 204 of the TSC1 protein (p.Arg204Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. 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: 417732). Experimental studies have shown that this missense change inhibited the protein-protein interactions of TSC1 and TSC2, slightly reduced the stability of TSC1 protein and resulted in increased phosphorylation of S6 kinase (S6K) (PMID: 28215400). 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.
OMIM RCV000477742 SCV000564180 pathogenic Focal cortical dysplasia type II 2017-04-11 no assertion criteria provided literature only

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