ClinVar Miner

Submissions for variant NM_000784.4(CYP27A1):c.1185-1G>T (rs587778779)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Unidad de Genómica Médica UC, Pontificia Universidad Católica de Chile RCV000056075 SCV000897997 pathogenic Cholestanol storage disease 2014-04-07 criteria provided, single submitter research The homozygous c.1185-1G>T variant causes skippig of exon 7 and the generation of a premature stop codon in exon 8, leading to the loss of the crucial adrenoxin binding domain of CYP27A1.
GeneReviews RCV000056075 SCV000087140 pathologic Cholestanol storage disease 2013-08-01 no assertion criteria provided curation Converted during submission to Pathogenic.

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