Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001878808 | SCV002134878 | uncertain significance | Glycogen storage disease XV; Polyglucosan body myopathy type 2 | 2022-07-19 | criteria provided, single submitter | clinical testing | This sequence change replaces aspartic acid, which is acidic and polar, with histidine, which is basic and polar, at codon 295 of the GYG1 protein (p.Asp295His). This variant is present in population databases (rs202085215, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with GYG1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1371072). 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 histidine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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 | RCV004616815 | SCV005127831 | uncertain significance | Inborn genetic diseases | 2024-03-19 | criteria provided, single submitter | clinical testing | The c.883G>C (p.D295H) alteration is located in exon 8 (coding exon 8) of the GYG1 gene. This alteration results from a G to C substitution at nucleotide position 883, causing the aspartic acid (D) at amino acid position 295 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |