ClinVar Miner

Submissions for variant NM_173076.3(ABCA12):c.859C>T (p.Arg287Ter) (rs11891778)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000255175 SCV000321315 pathogenic not provided 2016-07-26 criteria provided, single submitter clinical testing The R287X nonsense mutation has been reported previously in association with HI (Castiglia et al., 2009) and is predicted to cause loss of normal protein function through protein truncation or nonsense-mediated mRNA decay.
OMIM RCV000056334 SCV000087503 pathogenic Autosomal recessive congenital ichthyosis 4B 2009-10-01 no assertion criteria provided literature only
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000678039 SCV000803667 likely pathogenic Autosomal recessive congenital ichthyosis 4A 2018-08-13 no assertion criteria provided clinical testing The observed variant c.859C>T (p.Arg287Ter) has not been reported in 1000 Genomes and ExAC databases. The in silico prediction of the given variant is disease causing by MutationTaster2.

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