ClinVar Miner

Submissions for variant NM_003632.3(CNTNAP1):c.2015G>A (p.Trp672Ter)

dbSNP: rs1567973091
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000679953 SCV000807387 pathogenic Arthrogryposis, distal, type 1A 2017-09-01 criteria provided, single submitter clinical testing This nonsense mutation is categorized as deleterious according to ACMG guidelines (PMID:18414213). It was found once in our laboratory in a homozygous state in a newborn male with correctable distal arthrogryposis, areflexia, mild micrognathia, deceased from respiratory failure/severe hypotonia. There were previously affected sibs (not tested), and this family has been reported in abstract form (DOI:10.1007/s10897-014-9778-4)
Section for Clinical Neurogenetics, University of Tübingen RCV001030776 SCV001156083 pathogenic Neuropathy, congenital hypomyelinating, 3 2019-08-01 no assertion criteria provided research

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