ClinVar Miner

Submissions for variant NM_000382.3(ALDH3A2):c.1309A>T (p.Lys437Ter) (rs1567607328)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital,College of Medicine, The Catholic University of Korea RCV000757940 SCV000882774 pathogenic Sjögren-Larsson syndrome 2019-02-11 no assertion criteria provided research The proband has another variant, NM_000382.2: c.1291_1292del (p.Lys431Glufs*5).
GeneDx RCV000760414 SCV000890291 pathogenic not provided 2018-10-25 criteria provided, single submitter clinical testing The K437X variant in the ALDH3A2 gene has been reported previously in the homozygous state in two unrelated Honduran individuals with Sjogren-Larsson syndrome with varying disease severity (Davis et al., 2013). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The K437X variant is not observed in large population cohorts (Lek et al., 2016). We interpret K437X as a pathogenic variant.

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