ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.479T>A (p.Leu160Gln)

dbSNP: rs1555497725
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000534568 SCV000644568 uncertain significance Tuberous sclerosis 2 2023-02-08 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with TSC2-related conditions. This sequence change replaces leucine, which is neutral and non-polar, with glutamine, which is neutral and polar, at codon 160 of the TSC2 protein (p.Leu160Gln). This variant is not present in population databases (gnomAD no frequency). ClinVar contains an entry for this variant (Variation ID: 468112). 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"). 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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