ClinVar Miner

Submissions for variant NM_001289808.2(CRYAB):c.514del (p.Ala172fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics,INEBIR RCV001175167 SCV001132042 pathogenic Alpha-B crystallinopathy 2019-12-17 criteria provided, single submitter clinical testing The c.514delG p.(Ala172fs) de novo variant in CRYAB has been detected in a Spanish boy with autosomal dominant congenite bilateral cataracts, palpebral bilateral ptosis, congenital hypotonia, dysfunction of the mitochondrial respiratory chain and a slight delay in motor skills acquisition, acute respiratory failure, he has a permanent tracheostomy for intermittent mechanical respiratory assistance and also presented dysphagia, since then he is basically fed by gastrostomy. Cardiomyopathy was not observed at the age of 4 years old.

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