ClinVar Miner

Submissions for variant NM_005591.4(MRE11):c.1807A>G (p.Thr603Ala)

dbSNP: rs751657849
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000221518 SCV000276783 uncertain significance Hereditary cancer-predisposing syndrome 2023-06-07 criteria provided, single submitter clinical testing The p.T603A variant (also known as c.1807A>G), located in coding exon 15 of the MRE11A gene, results from an A to G substitution at nucleotide position 1807. The threonine at codon 603 is replaced by alanine, an amino acid with 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.
GeneKor MSA RCV000221518 SCV000822031 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-01 criteria provided, single submitter clinical testing
Invitae RCV001049319 SCV001213364 uncertain significance Ataxia-telangiectasia-like disorder 2024-01-30 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 603 of the MRE11 protein (p.Thr603Ala). This variant is present in population databases (rs751657849, gnomAD 0.0009%). 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: 232608). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The alanine 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.
Revvity Omics, Revvity RCV003133191 SCV003808928 uncertain significance Ataxia-telangiectasia-like disorder 1 2019-06-28 criteria provided, single submitter clinical testing

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