Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000652694 | SCV000774565 | uncertain significance | Charcot-Marie-Tooth disease axonal type 2Z | 2019-12-18 | 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 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 has not been reported in the literature in individuals with MORC2-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces valine with leucine at codon 236 of the MORC2 protein (p.Val236Leu). The valine residue is moderately conserved and there is a small physicochemical difference between valine and leucine. |
| Ambry Genetics | RCV003352976 | SCV004085460 | uncertain significance | Inborn genetic diseases | 2023-08-09 | criteria provided, single submitter | clinical testing | The c.892G>C (p.V298L) alteration is located in exon 10 (coding exon 10) of the MORC2 gene. This alteration results from a G to C substitution at nucleotide position 892, causing the valine (V) at amino acid position 298 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |