ClinVar Miner

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

dbSNP: rs1567053134
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000778448 SCV000914696 uncertain significance Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency 2018-10-30 criteria provided, single submitter clinical testing The CYP11A1 c.508_509delCT (p.Leu170ValfsTer30) variant has been reported in one individual affected with congenital adrenal insufficiency in a compound heterozygous state with a missense variant (Pomahacova et al. 2016). Frequency information is not available from the 1000 Genomes Project, the Exome Sequencing Project, the Exome Aggregation Consortium or the Genome Aggregation Database. Based on the evidence and the potential impact of frame-shift variants, the p.Leu170ValfsTer30 variant is considered to be of unknown significance but suspicious for pathogenicity for congenital adrenal insufficiency. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV000778448 SCV000993442 pathogenic Congenital adrenal insuffiency 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)

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