ClinVar Miner

Submissions for variant NM_005591.4(MRE11):c.1202A>G (p.His401Arg)

gnomAD frequency: 0.00002  dbSNP: rs146779325
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000791374 SCV000547435 uncertain significance Ataxia-telangiectasia-like disorder 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces histidine with arginine at codon 401 of the MRE11 protein (p.His401Arg). The histidine residue is moderately conserved and there is a small physicochemical difference between histidine and arginine. This variant is present in population databases (rs146779325, ExAC 0.003%). 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 arginine 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.
Ambry Genetics RCV000459053 SCV000669628 uncertain significance Hereditary cancer-predisposing syndrome 2022-09-20 criteria provided, single submitter clinical testing The p.H401R variant (also known as c.1202A>G), located in coding exon 10 of the MRE11A gene, results from an A to G substitution at nucleotide position 1202. The histidine at codon 401 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is not 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.
Gray Institute for Radiation Oncology & Biology, University of Oxford RCV000054462 SCV000082932 other Malignant tumor of urinary bladder no assertion criteria provided not provided

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