ClinVar Miner

Submissions for variant NM_001395413.1(POR):c.385G>A (p.Asp129Asn)

dbSNP: rs554865831
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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 RCV002009427 SCV002290010 uncertain significance Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency 2022-09-07 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 132 of the POR protein (p.Asp132Asn). This variant is not present in population databases (gnomAD no frequency). 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: 1507311). 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: "Benign"; 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 RCV004046209 SCV005009152 uncertain significance Inborn genetic diseases 2024-02-28 criteria provided, single submitter clinical testing The c.394G>A (p.D132N) alteration is located in exon 5 (coding exon 4) of the POR gene. This alteration results from a G to A substitution at nucleotide position 394, causing the aspartic acid (D) at amino acid position 132 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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