Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002681186 | SCV002981488 | uncertain significance | not provided | 2022-10-25 | criteria provided, single submitter | clinical testing | 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. 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"). This variant has not been reported in the literature in individuals affected with AKR1D1-related conditions. This variant is present in population databases (rs766798731, gnomAD 0.01%). This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 53 of the AKR1D1 protein (p.Asp53Asn). |
Institute of Medical Genetics and Genomics, |
RCV003235736 | SCV003933664 | uncertain significance | Congenital bile acid synthesis defect 2 | 2023-06-21 | criteria provided, single submitter | clinical testing | This homozygous variant c.157G>A (p.Asp53Asn) has been identified in a proband who presented with jaundice, high hepatic transaminases and failure to thrive. This variant is found in gnomAD-0.0012% and ExAc-0.0008%. This variant is also present in an 8 year old unaffected female sibling in the homozygous state. |