ClinVar Miner

Submissions for variant NM_005591.4(MRE11):c.173G>C (p.Gly58Ala)

dbSNP: rs1482890077
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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 RCV002239159 SCV002509464 uncertain significance Ataxia-telangiectasia-like disorder 2022-07-19 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with MRE11-related conditions. This sequence change replaces glycine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 58 of the MRE11 protein (p.Gly58Ala). This variant is not present in population databases (gnomAD no frequency). ClinVar contains an entry for this variant (Variation ID: 1681637). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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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