ClinVar Miner

Submissions for variant NM_000102.4(CYP17A1):c.297+2T>C (rs764723654)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000498324 SCV000589610 pathogenic not provided 2017-06-16 criteria provided, single submitter clinical testing The c.297+2 T>C splice site variant has been previously reported in association with CYP17A1-associated disorders (Hwang et al., 2011; Dong et al., 2016). This variant destroys the canonical splice donor site in intron 1, and functional studies have shown c.297+2 T>C leads to abnormal splicing and a decrease in CYP17A1 protein expression (Hwang et al., 2011). The variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). In summary, we consider this variant to be pathogenic.
GenomeConnect, ClinGen RCV000709945 SCV000840305 not provided Deficiency of steroid 17-alpha-monooxygenase no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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