Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001066586 | SCV001231601 | uncertain significance | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12; Limb-girdle muscular dystrophy due to POMK deficiency | 2019-11-27 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamic acid with glycine at codon 278 of the POMK protein (p.Glu278Gly). The glutamic acid residue is highly conserved and there is a moderate physicochemical difference between glutamic acid and glycine. This variant is present in population databases (rs757600130, ExAC 0.1%). This variant has not been reported in the literature in individuals with POMK-related conditions. 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 disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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 | RCV003307913 | SCV003976827 | uncertain significance | Inborn genetic diseases | 2023-05-18 | criteria provided, single submitter | clinical testing | The c.833A>G (p.E278G) alteration is located in exon 5 (coding exon 2) of the POMK gene. This alteration results from a A to G substitution at nucleotide position 833, causing the glutamic acid (E) at amino acid position 278 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |