ClinVar Miner

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

gnomAD frequency: 0.00001  dbSNP: rs745554420
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Total submissions: 4
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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 X-linked Opitz G/BBB syndrome 2016-11-01 criteria provided, single submitter clinical testing
Invitae RCV000627230 SCV004300096 pathogenic not provided 2023-04-03 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 523781). This premature translational stop signal has been observed in individual(s) with Opitz syndrome (PMID: 11030761). This variant is present in population databases (rs745554420, gnomAD 0.001%). This sequence change creates a premature translational stop signal (p.Arg495*) in the MID1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MID1 are known to be pathogenic (PMID: 15558842, 17221865, 21326312).
GeneReviews RCV000659854 SCV002567818 not provided X-linked Opitz G/BBB syndrome no assertion provided literature only

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