Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000817469 | SCV000958031 | uncertain significance | Severe combined immunodeficiency due to DCLRE1C deficiency | 2018-10-19 | 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. 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with DCLRE1C-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces asparagine with lysine at codon 448 of the DCLRE1C protein (p.Asn448Lys). The asparagine residue is moderately conserved and there is a moderate physicochemical difference between asparagine and lysine. |
| Ambry Genetics | RCV004028915 | SCV004853501 | uncertain significance | Inborn genetic diseases | 2023-11-17 | criteria provided, single submitter | clinical testing | The c.1344C>G (p.N448K) alteration is located in exon 14 (coding exon 14) of the DCLRE1C gene. This alteration results from a C to G substitution at nucleotide position 1344, causing the asparagine (N) at amino acid position 448 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |