Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001374089 | SCV001570861 | uncertain significance | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12; Limb-girdle muscular dystrophy due to POMK deficiency | 2020-03-06 | 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with POMK-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces methionine with threonine at codon 27 of the POMK protein (p.Met27Thr). The methionine residue is moderately conserved and there is a moderate physicochemical difference between methionine and threonine. |
| Ambry Genetics | RCV004037600 | SCV005007257 | uncertain significance | Inborn genetic diseases | 2023-12-27 | criteria provided, single submitter | clinical testing | The c.80T>C (p.M27T) alteration is located in exon 4 (coding exon 1) of the POMK gene. This alteration results from a T to C substitution at nucleotide position 80, causing the methionine (M) at amino acid position 27 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |