Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001321681 | SCV001512522 | uncertain significance | Early myoclonic encephalopathy | 2021-06-20 | criteria provided, single submitter | clinical testing | Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with JMJD1C-related conditions. This variant is present in population databases (rs570457493, ExAC 0.04%). This sequence change replaces aspartic acid with glycine at codon 1997 of the JMJD1C protein (p.Asp1997Gly). The aspartic acid residue is highly conserved and there is a moderate physicochemical difference between aspartic acid and glycine. 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 | RCV004035038 | SCV003625272 | uncertain significance | not specified | 2022-05-01 | criteria provided, single submitter | clinical testing | The c.5990A>G (p.D1997G) alteration is located in exon 16 (coding exon 16) of the JMJD1C gene. This alteration results from a A to G substitution at nucleotide position 5990, causing the aspartic acid (D) at amino acid position 1997 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |