ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.5060G>A (p.Cys1687Tyr)

dbSNP: rs2091058156
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001041014 SCV001204608 uncertain significance Tuberous sclerosis 2 2020-04-30 criteria provided, single submitter clinical testing 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with TSC2-related conditions. ClinVar contains an entry for this variant (Variation ID: 839292). This variant is not present in population databases (ExAC no frequency). This sequence change replaces cysteine with tyrosine at codon 1687 of the TSC2 protein (p.Cys1687Tyr). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and tyrosine.
Ambry Genetics RCV002339204 SCV002644071 uncertain significance Hereditary cancer-predisposing syndrome 2022-09-28 criteria provided, single submitter clinical testing The p.C1687Y variant (also known as c.5060G>A), located in coding exon 38 of the TSC2 gene, results from a G to A substitution at nucleotide position 5060. The cysteine at codon 1687 is replaced by tyrosine, an amino acid with highly dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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