Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV004701101 | SCV005204571 | likely pathogenic | Congenital adrenal hyperplasia | 2024-06-20 | criteria provided, single submitter | clinical testing | Variant summary: POR c.1685T>C (p.Leu562Pro) results in a non-conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The frequency data for this variant in gnomAD is considered unreliable, as metrics indicate poor data quality at this position. c.1685T>C has been reported in the literature in at least one compound heterozygous individual affected with Congenital Adrenal Hyperplasia (Huang_2005). At least one publication reports experimental evidence evaluating an impact on protein function. The most pronounced variant effect results in a significant reduction of catalytic activity in transfected bacterial cells (Huang_2005, Moutinho_2012). The following publications have been ascertained in the context of this evaluation (PMID: 15793702, 22252407). No submitters have cited clinical-significance assessments for this variant to ClinVar. Based on the evidence outlined above, the variant was classified as likely pathogenic. |
| Fulgent Genetics, |
RCV005038790 | SCV005667477 | likely pathogenic | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis; Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency | 2024-06-20 | criteria provided, single submitter | clinical testing |