ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1458C>G (p.Asn486Lys) (rs200532154)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000190067 SCV000243742 likely benign not specified 2015-10-26 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000644164 SCV000765854 uncertain significance Tuberous sclerosis 2 2019-07-04 criteria provided, single submitter clinical testing This sequence change replaces asparagine with lysine at codon 486 of the TSC2 protein (p.Asn486Lys). The asparagine residue is moderately conserved and there is a moderate physicochemical difference between asparagine and lysine. This variant is present in population databases (rs200532154, ExAC 0.002%). This variant has not been reported in the literature in individuals with TSC2-related disease. ClinVar contains an entry for this variant (Variation ID: 41728). 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.
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000034645 SCV000043528 variant of unknown significance not provided 2012-07-13 no assertion criteria provided research Converted during submission to Uncertain significance.

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