ClinVar Miner

Submissions for variant NM_000047.2(ARSL):c.1743G>A (p.Trp581Ter) (rs80338714)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000485780 SCV000564593 pathogenic not provided 2017-05-22 criteria provided, single submitter clinical testing The W581X variant in the ARSE gene has been reported previously in association with chondrodysplasia punctata (Sheffield et al., 1998; Brunetti-Pierri et al., 2003). This variant is predicted to cause loss of normal protein function through protein truncation. The W581X variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret W581X as a pathogenic variant.
OMIM RCV000012285 SCV000032519 pathogenic X-linked chondrodysplasia punctata 1 2003-03-01 no assertion criteria provided literature only
GeneReviews RCV000012285 SCV000040399 pathologic X-linked chondrodysplasia punctata 1 2011-11-03 no assertion criteria provided curation Converted during submission to Pathogenic.
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City RCV000012285 SCV001190738 pathogenic X-linked chondrodysplasia punctata 1 2020-02-05 no assertion criteria provided clinical testing

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