Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000635172 | SCV000756550 | uncertain significance | Early myoclonic encephalopathy | 2024-01-06 | criteria provided, single submitter | clinical testing | This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 1089 of the JMJD1C protein (p.Pro1089Ser). This variant is present in population databases (rs200160728, gnomAD 0.06%), and has an allele count higher than expected for a pathogenic variant. This variant has not been reported in the literature in individuals affected with JMJD1C-related conditions. ClinVar contains an entry for this variant (Variation ID: 529712). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on JMJD1C protein function. 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 | RCV004025456 | SCV003639530 | uncertain significance | not specified | 2021-09-30 | criteria provided, single submitter | clinical testing | The c.3265C>T (p.P1089S) alteration is located in exon 10 (coding exon 10) of the JMJD1C gene. This alteration results from a C to T substitution at nucleotide position 3265, causing the proline (P) at amino acid position 1089 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |