ClinVar Miner

Submissions for variant NM_000784.4(CYP27A1):c.586_587del (p.Ser196fs) (rs758739930)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000779307 SCV000915889 uncertain significance Cholestanol storage disease 2018-04-23 criteria provided, single submitter clinical testing The CYP27A1 c.586_587delAG (p.Ser196CysfsTer91) variant results in a frameshift, and is predicted to result in premature termination of the protein. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. Based on the variant frequency, disease prevalence, disease penetrance, and inheritance mode, this variant could not be ruled out of causing disease. Due to the potential impact of frameshift variants and the lack of clarifying evidence, this variant is classified as a variant of unknown significance but suspicious for pathogenicity for cerebrotendinous xanthomatosis. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
Invitae RCV000779307 SCV001375858 pathogenic Cholestanol storage disease 2019-08-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser196Cysfs*91) in the CYP27A1 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs758739930, ExAC 0.003%). This variant has not been reported in the literature in individuals with CYP27A1-related conditions. ClinVar contains an entry for this variant (Variation ID: 632347). Loss-of-function variants in CYP27A1 are known to be pathogenic (PMID: 9392430, 10775536, 26937392). For these reasons, this variant has been classified as Pathogenic.

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