ClinVar Miner

Submissions for variant NM_001101426.4(CRPPA):c.1315G>T (p.Glu439Ter) (rs1202301143)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000680012 SCV000807451 pathogenic Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 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

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