ClinVar Miner

Submissions for variant NM_005591.4(MRE11):c.1166T>A (p.Val389Glu)

dbSNP: rs1591680946
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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 RCV002462243 SCV002755881 uncertain significance Hereditary cancer-predisposing syndrome 2021-09-20 criteria provided, single submitter clinical testing The p.V389E variant (also known as c.1166T>A), located in coding exon 10 of the MRE11A gene, results from a T to A substitution at nucleotide position 1166. The valine at codon 389 is replaced by glutamic acid, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV000985223 SCV001133254 uncertain significance Ataxia-telangiectasia-like disorder 1 2019-09-26 no assertion criteria provided clinical testing

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