ClinVar Miner

Submissions for variant NM_005591.4(MRE11):c.2033G>A (p.Ser678Asn)

dbSNP: rs781684108
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000565796 SCV000669635 uncertain significance Hereditary cancer-predisposing syndrome 2022-08-03 criteria provided, single submitter clinical testing The p.S678N variant (also known as c.2033G>A), located in coding exon 18 of the MRE11A gene, results from a G to A substitution at nucleotide position 2033. The serine at codon 678 is replaced by asparagine, an amino acid with highly similar properties. This amino acid position is well 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 RCV002232445 SCV000764126 uncertain significance Ataxia-telangiectasia-like disorder 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces serine with asparagine at codon 678 of the MRE11 protein (p.Ser678Asn). The serine residue is moderately conserved and there is a small physicochemical difference between serine and asparagine. This variant is present in population databases (rs781684108, ExAC 0.002%). This variant has not been reported in the literature in individuals affected with MRE11-related conditions. 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 asparagine 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.

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