ClinVar Miner

Submissions for variant NM_005591.4(MRE11):c.2071GAT[6] (p.Asp695dup) (rs779409748)

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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 RCV000166107 SCV000216874 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-24 criteria provided, single submitter clinical testing The c.2083_2085dupGAT variant (also known as p.D695dup), located in coding exon 19 of the MRE11A gene, results from an in-frame duplication of GAT at nucleotide positions 2083 to 2085. This results in the duplication of an extra aspartic acid residue between codons 695 and 696 in the last exon of the gene. This codon is highly conserved in available primate species. <span style="background-color:initial">Since supporting evidence is limited at this time, the clinical significance of this alteration<span style="background-color:initial"> remains unclear.
Invitae RCV000549395 SCV000642130 uncertain significance Ataxia-telangiectasia-like disorder 2019-12-11 criteria provided, single submitter clinical testing This variant, c.2083_2085dupGAT, results in the insertion of 1 amino acid(s) to the MRE11 protein (p.Asp695dup), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with an MRE11-related disease. ClinVar contains an entry for this variant (Variation ID: 186502). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the duplicated amino acid is currently unknown. In summary, this variant has uncertain impact on MRE11 function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Baylor Genetics RCV001292959 SCV001481669 uncertain significance Ataxia-telangiectasia-like disorder 1 2020-07-30 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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