ClinVar Miner

Submissions for variant NM_000781.3(CYP11A1):c.508_509del (p.Leu170fs) (rs1567053134)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000778448 SCV000914696 uncertain significance Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete 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 Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete 2019-08-15 criteria provided, single submitter research ACMG codes: PVS1, PM2, PP4

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