ClinVar Miner

Submissions for variant NM_005591.4(MRE11):c.314+6T>C

dbSNP: rs864622413
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000408997 SCV000489048 uncertain significance Ataxia-telangiectasia-like disorder 1 2016-08-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001296095 SCV001485051 uncertain significance Ataxia-telangiectasia-like disorder 2024-08-05 criteria provided, single submitter clinical testing This sequence change falls in intron 4 of the MRE11 gene. It does not directly change the encoded amino acid sequence of the MRE11 protein. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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: 220181). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV003237767 SCV002010540 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003230450 SCV003928233 uncertain significance not specified 2023-04-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000205309 SCV004066152 uncertain significance Hereditary cancer-predisposing syndrome 2023-07-26 criteria provided, single submitter clinical testing The c.314+6T>C intronic variant results from a T to C substitution 6 nucleotides after coding exon 3 in the MRE11A gene. This nucleotide position is highly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will weaken the native splice donor site; however, direct evidence is insufficient at this time (Ambry internal data). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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