ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.1058G>A (p.Cys353Tyr) (rs876660024)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000217823 SCV000277094 uncertain significance Hereditary cancer-predisposing syndrome 2015-07-17 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Rarity in general population databases (dbsnp, esp, 1000 genomes),In silico models in agreement (deleterious) and/or completely conserved position in appropriate species,Insufficient or conflicting evidence
Invitae RCV000817344 SCV000957898 uncertain significance Tuberous sclerosis 1 2018-11-01 criteria provided, single submitter clinical testing This sequence change replaces cysteine with tyrosine at codon 353 of the TSC1 protein (p.Cys353Tyr). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and tyrosine. 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: 232846). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.

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