Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001951980 | SCV002189068 | uncertain significance | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | 2021-02-09 | 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: "Deleterious"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with GYS1-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This sequence change replaces asparagine with tyrosine at codon 737 of the GYS1 protein (p.Asn737Tyr). The asparagine residue is moderately conserved and there is a large physicochemical difference between asparagine and tyrosine. |
| Ambry Genetics | RCV002557781 | SCV003641906 | uncertain significance | Inborn genetic diseases | 2022-08-26 | criteria provided, single submitter | clinical testing | The c.2209A>T (p.N737Y) alteration is located in exon 16 (coding exon 16) of the GYS1 gene. This alteration results from a A to T substitution at nucleotide position 2209, causing the asparagine (N) at amino acid position 737 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |