ClinVar Miner

Submissions for variant NM_005591.4(MRE11):c.1225+10T>G

gnomAD frequency: 0.00001  dbSNP: rs863224734
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000200713 SCV000254849 likely benign Ataxia-telangiectasia-like disorder 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000281306 SCV000374933 uncertain significance Ataxia-telangiectasia-like disorder 1 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000281306 SCV002050148 uncertain significance Ataxia-telangiectasia-like disorder 1 2021-11-03 criteria provided, single submitter clinical testing The MRE11 c.1225+10T>G variant (rs863224734), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 216606). This variant is absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. This is an intronic variant in a weakly conserved nucleotide, and computational analyses (Alamut v.2.11) predict that this variant may impact splicing by creating a novel cryptic donor splice, although RNA studies would be required to confirm an effect on splicing. Given the lack of clinical and functional data, the significance of the c.1225+10T>G variant is uncertain at this time.

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