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

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Total submissions: 5

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
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.
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
GeneDx	RCV001007969	SCV001167699	pathogenic	not provided	2025-08-29	criteria provided, single submitter	clinical testing	Observed in hemizygous state in patients with features of MID1-related Opitz GBBB syndrome referred for genetic testing at GeneDx and in the literature and not observed in hemizygous state in controls (PMID: 15121778, 15558842); 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 at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 26663670, 25525159, 18697196, 25304119, 15558842, 37498300, 20301502, 15121778)
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
GeneReviews	RCV000659849	SCV002567816	not provided	X-linked Opitz G/BBB syndrome		no classification provided	literature only

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