ClinVar Miner

Submissions for variant NM_005591.3(MRE11):c.1852A>G (p.Met618Val) (rs375630981)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000131401 SCV000186377 uncertain significance Hereditary cancer-predisposing syndrome 2017-08-31 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000508182 SCV000604247 uncertain significance not specified 2017-02-10 criteria provided, single submitter clinical testing
Invitae RCV000705159 SCV000834144 uncertain significance Ataxia-telangiectasia-like disorder 1 2018-06-07 criteria provided, single submitter clinical testing This sequence change replaces methionine with valine at codon 618 of the MRE11 protein (p.Met618Val). The methionine residue is moderately conserved and there is a small physicochemical difference between methionine and valine. This variant is present in population databases (rs375630981, ExAC 0.005%). This variant has been observed in an individual affected with breast cancer (PMID: 24894818). ClinVar contains an entry for this variant (Variation ID: 142333). 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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