ClinVar Miner

Submissions for variant NM_000381.4(MID1):c.829C>T (p.Arg277Ter) (rs1555895704)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc,Center for Human Genetics, Inc RCV000659849 SCV000781728 pathogenic Opitz GBBB syndrome, type I 2016-11-01 criteria provided, single submitter clinical testing
GeneDx RCV001007969 SCV001167699 pathogenic not provided 2019-02-18 criteria provided, single submitter clinical testing The R277X variant in the MID1 gene has been reported previously in association with Opitz syndrome (Pinson et al., 2004). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R277X variant is not observed in large population cohorts (Lek et al., 2016). We interpret R277X as a pathogenic variant.

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