ClinVar Miner

Submissions for variant NM_005591.4(MRE11):c.1753G>A (p.Ala585Thr)

gnomAD frequency: 0.00002  dbSNP: rs754790440
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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 RCV000572406 SCV000666422 uncertain significance Hereditary cancer-predisposing syndrome 2020-06-22 criteria provided, single submitter clinical testing The p.A585T variant (also known as c.1753G>A), located in coding exon 14 of the MRE11A gene, results from a G to A substitution at nucleotide position 1753. The alanine at codon 585 is replaced by threonine, an amino acid with similar properties. This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV002232092 SCV000764138 uncertain significance Ataxia-telangiectasia-like disorder 2021-12-15 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 585 of the MRE11 protein (p.Ala585Thr). This variant is present in population databases (rs754790440, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with MRE11-related conditions. ClinVar contains an entry for this variant (Variation ID: 481760). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The threonine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Baylor Genetics RCV003465199 SCV004193820 uncertain significance Ataxia-telangiectasia-like disorder 1 2023-08-07 criteria provided, single submitter clinical testing

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