ClinVar Miner

Submissions for variant NM_000784.4(CYP27A1):c.845-1G>A (rs397515353)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000522490 SCV000617407 pathogenic not provided 2016-03-08 criteria provided, single submitter clinical testing The c.845-1 G>A splice variant in the CYP27A1 gene has been reported previously in individuals from two unrelated families with CTX who were homozygous for this variant or compound heterozygous for this variant and another pathogenic variant (Leitersdorf et al., 1993). It was also reported in a homozygous individual with a classic form of CTX (Pilo-de-la-Fuente et al., 2011). The c.845-1 G>A variant destroys the canonical splice acceptor site in intron 4. It is predicted to cause abnormal gene splicing, either leading to an abnormal message that is subject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used for protein translation. Therefore, c.845-1 G>A is considered to be a pathogenic variant.
OMIM RCV000004478 SCV000024651 pathogenic Cholestanol storage disease 1993-06-01 no assertion criteria provided literature only
GeneReviews RCV000004478 SCV000087233 pathologic Cholestanol storage disease 2013-08-01 no assertion criteria provided curation Converted during submission to Pathogenic.
Counsyl RCV000004478 SCV000789929 pathogenic Cholestanol storage disease 2017-02-27 no assertion criteria provided clinical testing

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