ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.4396G>T (p.Glu1466Ter)

dbSNP: rs866783525
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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 RCV000679954 SCV000807388 pathogenic Stickler syndrome type 2 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 maternally inherited in a newborn male with symmetric hypoplastic 2nd digits with absent nail, micrognathia, toe syndactyly. Mother unaffected.

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