ClinVar Miner

Submissions for variant NM_000785.4(CYP27B1):c.386+1G>A

dbSNP: rs770204470
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005089143 SCV005836103 likely pathogenic not provided 2024-02-22 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 2 of the CYP27B1 gene. RNA analysis indicates that disruption of this splice site induces altered splicing and may result in an absent or disrupted protein product. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. Disruption of this splice site has been observed in individual(s) with Vitamin D-dependent rickets (PMID: 12050193). This variant is also known as IVS2+1G>A. ClinVar contains an entry for this variant (Variation ID: 1671). Studies have shown that disruption of this splice site results in activation of a cryptic splice site and introduces a premature termination codon (PMID: 12050193). The resulting mRNA is expected to undergo nonsense-mediated decay. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
OMIM RCV000001738 SCV000021894 pathogenic Vitamin D-dependent rickets, type 1A 2002-06-01 no assertion criteria provided literature only

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