ClinVar Miner

Submissions for variant NM_005591.4(MRE11):c.231G>T (p.Glu77Asp)

dbSNP: rs755553376
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002233392 SCV000832059 uncertain significance Ataxia-telangiectasia-like disorder 2018-03-15 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with aspartic acid at codon 77 of the MRE11 protein (p.Glu77Asp). The glutamic acid residue is moderately conserved and there is a small physicochemical difference between glutamic acid and aspartic acid. This variant is present in population databases (rs755553376, ExAC 0.01%). This variant has not been reported in the literature in individuals with MRE11-related disease. 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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