ClinVar Miner

Submissions for variant NM_001395413.1(POR):c.1640G>A (p.Arg547Gln)

gnomAD frequency: 0.00004  dbSNP: rs1320059073
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001963593 SCV002252748 uncertain significance Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency 2022-08-23 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 550 of the POR protein (p.Arg550Gln). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with POR-related conditions. ClinVar contains an entry for this variant (Variation ID: 1465008). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004796695 SCV005418903 likely pathogenic Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis criteria provided, single submitter clinical testing PM2_Supporting+PP3_Moderate+PP4+PM3

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