ClinVar Miner

Submissions for variant NM_001395413.1(POR):c.571C>T (p.Arg191Trp)

gnomAD frequency: 0.00009  dbSNP: rs782025961
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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 RCV001877864 SCV002145918 uncertain significance Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency 2021-09-17 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 194 of the POR protein (p.Arg194Trp). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and tryptophan. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals affected with POR-related conditions. 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.
Ambry Genetics RCV002552141 SCV003548231 uncertain significance Inborn genetic diseases 2022-03-25 criteria provided, single submitter clinical testing The c.580C>T (p.R194W) alteration is located in exon 6 (coding exon 5) of the POR gene. This alteration results from a C to T substitution at nucleotide position 580, causing the arginine (R) at amino acid position 194 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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