Submissions for variant NM_000784.4(CYP27A1):c.1381C>T (p.Gln461Ter)

dbSNP: rs771819245

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000733808	SCV000861908	pathogenic	not provided	2018-06-20	criteria provided, single submitter	clinical testing
Invitae	RCV001229793	SCV001402250	pathogenic	Cholestanol storage disease	2021-11-27	criteria provided, single submitter	clinical testing	For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 597631). This variant is also known as p.Gln428*. This premature translational stop signal has been observed in individuals with Cerebrotendinous xanthomatosis (PMID: 11181744, 20925952). This variant is present in population databases (rs771819245, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Gln461*) in the CYP27A1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CYP27A1 are known to be pathogenic (PMID: 9392430, 10775536, 26937392).
Institute of Human Genetics, University of Leipzig Medical Center	RCV001229793	SCV002765063	pathogenic	Cholestanol storage disease	2022-11-22	criteria provided, single submitter	clinical testing	_x000D_This variant was identified as compound heterozygous with NM_000784.4:c.1297dup Criteria applied: PVS1, PM3_STR, PM2_SUP