Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV002599292 | SCV003496657 | uncertain significance | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | 2022-05-07 | 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: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The proline amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. This variant has not been reported in the literature in individuals affected with GYS1-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces alanine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 697 of the GYS1 protein (p.Ala697Pro). |
| Ambry Genetics | RCV005335686 | SCV006014736 | uncertain significance | Inborn genetic diseases | 2025-01-10 | criteria provided, single submitter | clinical testing | The c.2089G>C (p.A697P) alteration is located in exon 16 (coding exon 16) of the GYS1 gene. This alteration results from a G to C substitution at nucleotide position 2089, causing the alanine (A) at amino acid position 697 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |