ClinVar Miner

Submissions for variant NM_144573.3(NEXN):c.1252-11T>G (rs781115798)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000599078 SCV000710692 uncertain significance not provided 2018-02-20 criteria provided, single submitter clinical testing The c.1252-11 T>G variant has not been published as pathogenic or been reported as benign to our knowledge. In-silico splice prediction models are inconsistent in their predictions as to whether or not c.1252-11 T>G may destroy the narutal acceptor site in intron 10. Nevertheless, in the absence of mRNA functional studies, the physiological consequence of this variant cannot be precisely determined, and haploinsufficiency is not a well-established disease mechanism for the NEXN gene. Lastly, c.1252-11 T>G was observed in 12/23322 (0.05%) alleles from individuals of African background from large population cohorts (Lek et al., 2016).

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