ClinVar Miner

Submissions for variant NM_001395413.1(POR):c.1541G>C (p.Arg514Pro)

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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 RCV002976724 SCV003291421 uncertain significance Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency 2022-01-03 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with proline, which is neutral and non-polar, at codon 517 of the POR protein (p.Arg517Pro). This variant is present in population databases (rs781813178, gnomAD 0.03%). 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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 RCV002988391 SCV003545209 uncertain significance Inborn genetic diseases 2022-04-25 criteria provided, single submitter clinical testing The c.1550G>C (p.R517P) alteration is located in exon 13 (coding exon 12) of the POR gene. This alteration results from a G to C substitution at nucleotide position 1550, causing the arginine (R) at amino acid position 517 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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