ClinVar Miner

Submissions for variant NM_000784.4(CYP27A1):c.69C>T (p.His23=)

gnomAD frequency: 0.00001  dbSNP: rs1444634924
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002222885 SCV002500164 likely benign not specified 2022-03-07 criteria provided, single submitter clinical testing Variant summary: CYP27A1 c.69C>T alters a non-conserved nucleotide resulting in a synonymous change. 4/4 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 6.5e-06 in 155006 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.69C>T in individuals affected with Cerebrotendinous Xanthomatosis and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely benign.
Ambry Genetics RCV002363723 SCV002665429 likely benign Cardiovascular phenotype 2021-11-19 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CeGaT Center for Human Genetics Tuebingen RCV003434452 SCV004151402 likely benign not provided 2023-10-01 criteria provided, single submitter clinical testing CYP27A1: BP4, BP7
Labcorp Genetics (formerly Invitae), Labcorp RCV003611568 SCV004390726 likely benign Cholestanol storage disease 2024-05-28 criteria provided, single submitter clinical testing

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