ClinVar Miner

Submissions for variant NM_001080421.1(UNC13A):c.130G>T (p.Gly44Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Smedley Team, Phenogenomics Group, Queen Mary University of London RCV004813558 SCV005431538 likely pathogenic Monogenic diabetes no assertion criteria provided case-control This variant, resulting in a stop-gain in UNC13A (p.Gly44*) that is predicted to lead to NMD (PVS1), was detected in a patient recruited to the 100,000 Genomes Project under the 'diabetes with additional phenotypes suggestive of a monogenic aetiology' specific disease category. In addition, this variant is absent from gnomAD and was classified as PM2 leading to an overall pathogenic classification. UNC13A was identified as a novel disease-gene association for monongenic diabetes in a gene burden study of the 100,000 Genomes Project.

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