ClinVar Miner

Submissions for variant NM_005591.4(MRE11):c.62T>C (p.Ile21Thr)

dbSNP: rs1475558133
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000823893 SCV000964764 uncertain significance Ataxia-telangiectasia-like disorder 2024-04-15 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 21 of the MRE11 protein (p.Ile21Thr). This variant is present in population databases (no rsID available, 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: 665578). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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 RCV004639385 SCV005136341 uncertain significance Hereditary cancer-predisposing syndrome 2024-06-13 criteria provided, single submitter clinical testing The p.I21T variant (also known as c.62T>C), located in coding exon 2 of the MRE11A gene, results from a T to C substitution at nucleotide position 62. The isoleucine at codon 21 is replaced by threonine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.

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