ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.209C>A (p.Thr70Asn) (rs1013995962)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000999527 SCV001156188 uncertain significance not provided 2016-05-01 criteria provided, single submitter clinical testing
Invitae RCV001235307 SCV001407986 uncertain significance Tuberous sclerosis 2 2019-11-05 criteria provided, single submitter clinical testing This sequence change replaces threonine with asparagine at codon 70 of the TSC2 protein (p.Thr70Asn). The threonine residue is highly conserved and there is a small physicochemical difference between threonine and asparagine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with TSC2-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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