ClinVar Miner

Submissions for variant NM_001101426.4(CRPPA):c.1315G>T (p.Glu439Ter)

dbSNP: rs1202301143
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000680012 SCV000807451 pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 2017-09-01 criteria provided, single submitter clinical testing This nonsense mutation is categorized as deleterious according to ACMG guidelines (PMID:18414213) and was found once in our laboratory in trans with a pathogenic variant in a newborn female with MRI suggestive of Walker-Warburg, microphthalmia, possible cataract, encephalocele, hypotonia, dysmorhisms
Daryl Scott Lab, Baylor College of Medicine RCV000680012 SCV004102678 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 2023-11-10 criteria provided, single submitter clinical testing
GeneDx RCV004719943 SCV005326212 likely pathogenic not provided 2023-05-05 criteria provided, single submitter clinical testing Reported previously in a patient who also harbored a second variant (phase unknown); however, no clinical information was provided (Meng et al., 2017); Not observed at significant frequency in large population cohorts (gnomAD); Nonsense variant predicted to result in protein truncation as the last 13 amino acids are lost, although loss-of-function variants have not been reported downstream of this position in the protein; This variant is associated with the following publications: (PMID: 28973083)

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