Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001247270 | SCV001420680 | uncertain significance | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12; Limb-girdle muscular dystrophy due to POMK deficiency | 2022-02-04 | 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The glycine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 971481). This variant has not been reported in the literature in individuals affected with POMK-related conditions. This variant is present in population databases (rs765276659, gnomAD 0.006%). This sequence change replaces serine, which is neutral and polar, with glycine, which is neutral and non-polar, at codon 112 of the POMK protein (p.Ser112Gly). |
| Ambry Genetics | RCV003246814 | SCV003950809 | uncertain significance | Inborn genetic diseases | 2023-04-10 | criteria provided, single submitter | clinical testing | The c.334A>G (p.S112G) 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 334, causing the serine (S) at amino acid position 112 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |