ClinVar Miner

Submissions for variant NM_001395413.1(POR):c.301G>A (p.Asp101Asn)

gnomAD frequency: 0.00001  dbSNP: rs958254199
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001948209 SCV002201604 uncertain significance Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with asparagine at codon 104 of the POR protein (p.Asp104Asn). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and asparagine. This variant is not present in population databases (ExAC no frequency). 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.

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