ClinVar Miner

Submissions for variant NM_001146079.2(CLDN14):c.427G>A (p.Val143Met)

gnomAD frequency: 0.00004  dbSNP: rs776564488
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003235603 SCV003932892 uncertain significance not provided 2022-12-15 criteria provided, single submitter clinical testing Reported without a second variant in multiple individuals belonging to a single family with chorodial Vein of Galen malformations in published literature (Duran et al., 2019); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 34426522, 30578106)
Yale Center for Mendelian Genomics, Yale University RCV001849633 SCV002106544 association Vein of Galen aneurysmal malformation 2018-12-18 no assertion criteria provided literature only

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