ClinVar Miner

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

dbSNP: rs1555895704
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Total submissions: 5
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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 X-linked Opitz G/BBB syndrome 2016-11-01 criteria provided, single submitter clinical testing
GeneDx RCV001007969 SCV001167699 pathogenic not provided 2020-06-29 criteria provided, single submitter clinical testing Reported previously in multiple individuals with Opitz syndrome (Pinson et al., 2004; So et al., 2005); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 26663670, 25525159, 15121778, 18697196, 25304119, 15558842)
Génétique des Maladies du Développement, Hospices Civils de Lyon RCV001263107 SCV001441184 pathogenic Dandy-Walker syndrome 2020-10-30 criteria provided, single submitter clinical testing Nonsense variant absent from gnomAD de novo. 20A4507
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000659849 SCV001737751 pathogenic X-linked Opitz G/BBB syndrome 2021-05-28 criteria provided, single submitter clinical testing Variant summary: MID1 c.829C>T (p.Arg277X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant was absent in 183045 control chromosomes (gnomAD). c.829C>T has been reported in the literature in individuals affected with Opitz GBBB Syndrome, Type I (Pinson_2004, So_2005). These data indicate that the variant may be associated with disease. Three ClinVar submitters (evaluation after 2014) cite the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.
GeneReviews RCV000659849 SCV002567816 not provided X-linked Opitz G/BBB syndrome no assertion provided literature only

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