ClinVar Miner

Submissions for variant NM_000381.4(MID1):c.1483C>T (p.Arg495Ter) (rs745554420)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000627230 SCV000748219 pathogenic not provided 2018-03-28 criteria provided, single submitter clinical testing The R495X variant in the MID1 gene has been reported previously in association with Opitz G/BBB syndrome (Cox et al., 2000; De Falco et al., 2003). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R495X variant is observed in 1/79864 (0.0013%) allele from individuals of non-Finnish European background in large population cohorts, and this individual was not reported to be hemizygous (Lek et al., 2016). We interpret R495X as a pathogenic variant.
Center for Human Genetics, Inc,Center for Human Genetics, Inc RCV000659854 SCV000781733 pathogenic Opitz GBBB syndrome, type I 2016-11-01 criteria provided, single submitter clinical testing

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