Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genomic Research Center, |
RCV000785139 | SCV000923701 | uncertain significance | Pseudohypoaldosteronism type 2D | 2019-01-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003546601 | SCV004275539 | uncertain significance | not provided | 2023-08-09 | criteria provided, single submitter | clinical testing | This variant is present in population databases (rs375871642, gnomAD 0.02%). This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 565 of the KLHL3 protein (p.Thr565Met). This variant has not been reported in the literature in individuals affected with KLHL3-related conditions. ClinVar contains an entry for this variant (Variation ID: 634612). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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. |