ClinVar Miner

Submissions for variant NM_005591.4(MRE11):c.1243G>C (p.Gly415Arg)

dbSNP: rs1591675029
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000806456 SCV000946458 uncertain significance Ataxia-telangiectasia-like disorder 2018-10-12 criteria provided, single submitter clinical testing 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. 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. This variant has not been reported in the literature in individuals with MRE11-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with arginine at codon 415 of the MRE11 protein (p.Gly415Arg). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and arginine.

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