ClinVar Miner

Submissions for variant NM_000784.4(CYP27A1):c.256-1G>T

dbSNP: rs886556800
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668882 SCV000793556 likely pathogenic Cholestanol storage disease 2017-08-18 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000728856 SCV000856474 pathogenic not provided 2017-08-29 criteria provided, single submitter clinical testing
Unidad de Genómica Médica UC, Pontificia Universidad Católica de Chile RCV000668882 SCV000897999 pathogenic Cholestanol storage disease 2014-04-07 criteria provided, single submitter research This patient is a compound heterozygote for the substitution c.256-1G>T that causes exon 2 skipping, leading to a premature stop codon in exon 3, and for the pathogenic mutation c.1183C>T(p.Arg395Cys).
Invitae RCV000668882 SCV002240818 pathogenic Cholestanol storage disease 2024-01-17 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 1 of the CYP27A1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in CYP27A1 are known to be pathogenic (PMID: 9392430, 10775536, 26937392). This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individual(s) with cerebrotendinous xanthomatosis (PMID: 25983621). ClinVar contains an entry for this variant (Variation ID: 553433). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000668882 SCV004190834 pathogenic Cholestanol storage disease 2023-01-28 criteria provided, single submitter clinical testing

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