ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.614T>C (p.Leu205Pro)

dbSNP: rs2085789314
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001066224 SCV001231229 uncertain significance Tuberous sclerosis 2 2021-11-09 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with TSC2-related conditions. ClinVar contains an entry for this variant (Variation ID: 859992). 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: "Tolerated"; 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. This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 205 of the TSC2 protein (p.Leu205Pro).
Ambry Genetics RCV002355082 SCV002661368 uncertain significance Hereditary cancer-predisposing syndrome 2022-08-13 criteria provided, single submitter clinical testing The p.L205P variant (also known as c.614T>C), located in coding exon 6 of the TSC2 gene, results from a T to C substitution at nucleotide position 614. The leucine at codon 205 is replaced by proline, an amino acid with similar 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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