Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001342452 | SCV001536385 | uncertain significance | Glycogen storage disease XV; Polyglucosan body myopathy type 2 | 2020-08-23 | criteria provided, single submitter | clinical testing | The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This sequence change replaces cysteine with phenylalanine at codon 291 of the GYG1 protein (p.Cys291Phe). The cysteine residue is weakly conserved and there is a large physicochemical difference between cysteine and phenylalanine. 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: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with GYG1-related conditions. |
| Ambry Genetics | RCV004035997 | SCV004881941 | uncertain significance | Inborn genetic diseases | 2023-12-12 | criteria provided, single submitter | clinical testing | The c.872G>T (p.C291F) alteration is located in exon 7 (coding exon 7) of the GYG1 gene. This alteration results from a G to T substitution at nucleotide position 872, causing the cysteine (C) at amino acid position 291 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |