ClinVar Miner

Submissions for variant NM_005591.4(MRE11):c.1783+8C>G

gnomAD frequency: 0.00002  dbSNP: rs372784831
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000553282 SCV000642124 uncertain significance Ataxia-telangiectasia-like disorder 2020-10-14 criteria provided, single submitter clinical testing In summary, this is a rare intronic change with uncertain impact on splicing. It has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of nucleotide changes on RNA splicing suggest that this intronic variant may alter RNA splicing, but this prediction has not been confirmed by published transcriptional studies. This variant is present in population databases (rs372784831, ExAC 0.006%) but has not been reported in the literature in individuals with an MRE11-related disease. This sequence change falls in intron 15 of the MRE11 gene. It does not directly change the encoded amino acid sequence of the MRE11 protein.

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