ClinVar Miner

Submissions for variant NM_000102.4(CYP17A1):c.1459_1467del (p.Asp487_Phe489del)

dbSNP: rs756135168
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000778268 SCV000914441 pathogenic Deficiency of steroid 17-alpha-monooxygenase 2018-08-14 criteria provided, single submitter clinical testing Across a selection of the available literature, the CYP17A1 c.1459_1467delGACTCTTTC (p.Asp487_Phe489del) inframe deletion variant was identified in a total of 12 individuals affected with congenital adrenal hyperplasia, including in three unrelated individuals in a homozygous state and in a further nine individuals (including one set of three siblings and two sets of two siblings) in a compound heterozygous state (Qiao et al. 2003; Wong et al. 2006; Yang et al. 2006; Bee et al. 2012; Zhu et al. 2015; Xu et al. 2017). Control data are unavailable for the p.Asp487_Phe489del variant which is reported at a frequency of 0.000430 in the East Asian population of the Genome Aggregation Database. Based on the evidence, the p.Asp487_Phe489del variant is classified as pathogenic for congenital adrenal hyperplasia. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
Labcorp Genetics (formerly Invitae), Labcorp RCV000809331 SCV000949480 pathogenic not provided 2024-02-22 criteria provided, single submitter clinical testing This variant, c.1459_1467del, results in the deletion of 3 amino acid(s) of the CYP17A1 protein (p.Asp487_Phe489del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs756135168, gnomAD 0.04%). This variant has been observed in individuals with congenital adrenal hyperplasia (PMID: 8345056, 12706306, 16772352, 19508587, 22087567, 25697092, 27959413). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 631622). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. Experimental studies have shown that this variant affects CYP17A1 function (PMID: 8345056). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV000778268 SCV002811513 pathogenic Deficiency of steroid 17-alpha-monooxygenase 2022-03-23 criteria provided, single submitter clinical testing
Baylor Genetics RCV000778268 SCV004215385 pathogenic Deficiency of steroid 17-alpha-monooxygenase 2024-03-23 criteria provided, single submitter clinical testing
OMIM RCV002265882 SCV000022034 pathogenic 17-alpha-hydroxylase/17,20-lyase deficiency, combined complete 2006-09-01 no assertion criteria provided literature only
Natera, Inc. RCV000778268 SCV001459686 pathogenic Deficiency of steroid 17-alpha-monooxygenase 2020-09-16 no assertion criteria provided clinical testing

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