ClinVar Miner

Submissions for variant NM_001395413.1(POR):c.898C>T (p.Leu300Phe)

gnomAD frequency: 0.00042  dbSNP: rs201649877
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001564558 SCV001787741 uncertain significance not provided 2020-07-29 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001865991 SCV002197448 uncertain significance Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency 2021-11-25 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 303 of the POR protein (p.Leu303Phe). This variant is present in population databases (rs201649877, gnomAD 0.09%). 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: 1199771). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The phenylalanine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.

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