Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001297854 | SCV001486891 | uncertain significance | Charcot-Marie-Tooth disease axonal type 2Z | 2023-06-04 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with MORC2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 804 of the MORC2 protein (p.Asn804Ser). ClinVar contains an entry for this variant (Variation ID: 1001538). 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. 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 MORC2 protein function. |
| Ambry Genetics | RCV003166667 | SCV003899896 | uncertain significance | Inborn genetic diseases | 2023-02-21 | criteria provided, single submitter | clinical testing | The c.2411A>G (p.N804S) alteration is located in exon 22 (coding exon 22) of the MORC2 gene. This alteration results from a A to G substitution at nucleotide position 2411, causing the asparagine (N) at amino acid position 804 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |