Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001201977 | SCV001373072 | uncertain significance | Early myoclonic encephalopathy | 2020-01-28 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals with JMJD1C-related conditions. 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant is present in population databases (rs570688428, ExAC 0.07%), and has an allele count higher than expected for a pathogenic variant (PMID: 28166811). This sequence change replaces glycine with aspartic acid at codon 1158 of the JMJD1C protein (p.Gly1158Asp). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and aspartic acid. |
| Ambry Genetics | RCV004629482 | SCV005127362 | uncertain significance | not specified | 2024-04-23 | criteria provided, single submitter | clinical testing | The c.3473G>A (p.G1158D) alteration is located in exon 10 (coding exon 10) of the JMJD1C gene. This alteration results from a G to A substitution at nucleotide position 3473, causing the glycine (G) at amino acid position 1158 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |