ClinVar Miner

Submissions for variant NM_005591.3(MRE11):c.77T>C (p.Met26Thr) (rs372068015)

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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 RCV000160576 SCV000218111 uncertain significance Hereditary cancer-predisposing syndrome 2017-06-29 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
CeGaT Praxis fuer Humangenetik Tuebingen RCV000761799 SCV000891996 uncertain significance not provided 2018-09-30 criteria provided, single submitter clinical testing
Invitae RCV000684815 SCV000288950 likely pathogenic Ataxia-telangiectasia-like disorder 1 2018-03-12 criteria provided, single submitter clinical testing This sequence change replaces methionine with threonine at codon 26 of the MRE11 protein (p.Met26Thr). The methionine residue is moderately conserved and there is a moderate physicochemical difference between methionine and threonine. This variant is present in population databases (rs372068015, ExAC 0.002%) but has not been reported in the literature. This variant has been observed in two individuals within this family who had a phenotype consistent with ataxia telangiectasia. Both individuals carried a second pathogenic allele, in trans with this missense mutation, in the MRE11 gene (previous testing results from external laboratory). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, this is a rare missense change that has been observed to co-occur in trans with a pathogenic mutation in two affected individuals. For these reasons, this change has been classified as Likely Pathogenic.

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