ClinVar Miner

Submissions for variant NM_031889.3(ENAM):c.588+1del

dbSNP: rs752102959
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003394139 SCV004121287 pathogenic ENAM-related disorder 2022-11-07 criteria provided, single submitter clinical testing The ENAM c.588+1delG variant is predicted to result in a deletion affecting a canonical splice site. This is one of the most frequently reported variants in individuals with autosomal dominant hypoplastic amelogenesis imperfecta (Wright et al. 2011. PubMed ID: 21597265; Zhang et al. 2019. PubMed ID: 31478359). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. This variant is interpreted as pathogenic.
GeneDx RCV004591549 SCV005078566 pathogenic not provided 2024-07-11 criteria provided, single submitter clinical testing Published functional studies demonstrate a damaging effect as the truncated protein was refractory to secretion and increased the ER stress response and apoptosis, and decreased cell survival (PMID: 38716742); Not observed in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 31478359, 21597265, 12828988, 38716742, 12407086)
Wang Lab, School of Dentistry, National Taiwan University RCV001554271 SCV001775496 pathogenic Amelogenesis imperfecta - hypoplastic autosomal dominant - local 2021-08-09 no assertion criteria provided research

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