ClinVar Miner

Submissions for variant NM_005591.4(MRE11):c.658A>C (p.Arg220=)

dbSNP: rs764827899
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002239143 SCV002509517 uncertain significance Ataxia-telangiectasia-like disorder 2021-07-01 criteria provided, single submitter clinical testing This sequence change affects codon 220 of the MRE11 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the MRE11 protein. RNA analysis indicates that this variant induces altered splicing and may result in an absent or disrupted protein product. This variant is present in population databases (rs764827899, ExAC 0.02%). This variant has been observed in individual(s) with Nijmegen breakage syndrome-like severe microcephaly (PMID: 21227757). Studies have shown that this variant results in skipping of exon 7, which introduces a premature termination codon (PMID: 21227757). The resulting mRNA is expected to undergo nonsense-mediated decay. 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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