Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV003589760 | SCV004366397 | uncertain significance | Early infantile epileptic encephalopathy with suppression bursts | 2023-09-21 | 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. 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. This variant has not been reported in the literature in individuals affected with KCNH5-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces cysteine, which is neutral and slightly polar, with serine, which is neutral and polar, at codon 636 of the KCNH5 protein (p.Cys636Ser). |
Ambry Genetics | RCV004985387 | SCV005600722 | uncertain significance | Inborn genetic diseases | 2024-07-02 | criteria provided, single submitter | clinical testing | The c.1906T>A (p.C636S) alteration is located in exon 10 (coding exon 10) of the KCNH5 gene. This alteration results from a T to A substitution at nucleotide position 1906, causing the cysteine (C) at amino acid position 636 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |