ClinVar Miner

Submissions for variant NM_002317.7(LOX):c.743C>T (p.Thr248Ile)

dbSNP: rs1561420103
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004719976 SCV005325531 uncertain significance not provided 2023-08-29 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Functional studies showed that p.(T248I) does not significantly change protein levels or enzyme activity (Guo et al., 2016); Identified in a patient with aortic aneurysm in published literature (Guo et al., 2016); This variant is associated with the following publications: (PMID: 26838787)
University of Washington Center for Mendelian Genomics, University of Washington RCV000755143 SCV000882965 pathogenic Congenital aneurysm of ascending aorta; Acute aortic dissection 2016-01-12 no assertion criteria provided research

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