ClinVar Miner

Submissions for variant NM_000500.9(CYP21A2):c.1118+2T>C

dbSNP: rs1776240589
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV001293364 SCV002061602 pathogenic Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 2021-04-23 criteria provided, single submitter clinical testing PVS1, PM2, PM3
Lifecell International Pvt. Ltd RCV001293364 SCV001481973 pathogenic Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency no assertion criteria provided clinical testing This variant in Intron 8 of the CYP21A2 gene c.1118+2 T>C (NM_000500.7). This variant was observed in a proband with a increased level of 17-OHP enzyme (>296.9 nM/L) which was screened for advanced newborn screening with confirmatory genetic reflex testing at lifecell diagnostics. The reference base is conserved across the species and in-silico predictions by Polyphen and SIFT are damaging. IVS8 + 2 T>C abolishes the intron 8 donor splice, leading to retention of intron 8 with the creation of a premature termination codon.

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