ClinVar Miner

Submissions for variant NM_005591.4(MRE11):c.1563+1G>A

gnomAD frequency: 0.00001  dbSNP: rs1381679718
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001378466 SCV001576036 likely pathogenic Ataxia-telangiectasia-like disorder 2022-02-25 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 14 of the MRE11 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in MRE11 are known to be pathogenic (PMID: 23080121, 23912341). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 1067255). This variant has not been reported in the literature in individuals affected with MRE11-related conditions. This variant is not present in population databases (gnomAD no frequency).
Baylor Genetics RCV004570930 SCV005053408 uncertain significance Ataxia-telangiectasia-like disorder 1 2023-11-02 criteria provided, single submitter clinical testing

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