ClinVar Miner

Submissions for variant NM_000781.3(CYP11A1):c.508_509del (p.Leu170fs)

dbSNP: rs1567053134
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000778448 SCV000914696 pathogenic Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency 2024-09-05 criteria provided, single submitter clinical testing
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV000778448 SCV000993442 pathogenic Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency 2019-08-15 criteria provided, single submitter research ACMG codes: PVS1, PM2, PP4
GeneDx RCV003328627 SCV004035866 pathogenic not provided 2023-03-17 criteria provided, single submitter clinical testing Observed in homozygous state and with a second CYP11A1 variant on the opposite allele (in trans) in unrelated patients with CYP11A1-related congenital adrenal insufficiency referred for genetic testing at GeneDx and in the literature (Pomahacova et al., 2016; Bowling et al., 2022); Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 34930662, 27008691)
Labcorp Genetics (formerly Invitae), Labcorp RCV003328627 SCV005837154 pathogenic not provided 2023-11-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu170Valfs*30) in the CYP11A1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CYP11A1 are known to be pathogenic (PMID: 15507506, 22435390, 27855232, 229968487). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with autosomal recessive adrenal insufficiency due to SCC enzyme deficiency (PMID: 27008691). ClinVar contains an entry for this variant (Variation ID: 631742). For these reasons, this variant has been classified as Pathogenic.

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