ClinVar Miner

Submissions for variant NM_000489.5(ATRX):c.2484G>C (p.Met828Ile) (rs782705007)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000503517 SCV000593557 uncertain significance not specified 2017-02-20 criteria provided, single submitter clinical testing
Invitae RCV000640828 SCV000762429 uncertain significance ATR-X syndrome 2017-09-25 criteria provided, single submitter clinical testing This sequence change replaces methionine with isoleucine at codon 828 of the ATRX protein (p.Met828Ile). The methionine residue is moderately conserved and there is a small physicochemical difference between methionine and isoleucine. This variant is present in population databases (rs782705007, ExAC 0.008%), including at least one homozygous and/or hemizygous individual. This variant has not been reported in the literature in individuals with ATRX-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function 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.

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