Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000730059 | SCV000857768 | uncertain significance | not provided | 2017-10-27 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001042496 | SCV001206178 | uncertain significance | Glycogen storage disease, type II | 2021-08-26 | criteria provided, single submitter | clinical testing | This sequence change replaces histidine with glutamine at codon 308 of the GAA protein (p.His308Gln). The histidine residue is highly conserved and there is a small physicochemical difference between histidine and glutamine. This variant is present in population databases (rs370105640, ExAC 0.01%). This variant has not been reported in the literature in individuals affected with GAA-related conditions. ClinVar contains an entry for this variant (Variation ID: 594706). 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 disrupts the p.His308 amino acid residue in GAA. Other variant(s) that disrupt this residue have been observed in individuals with GAA-related conditions (PMID: 11071489, 14695532), which suggests that this may be a clinically significant amino acid residue. 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. |
Genome- |
RCV001042496 | SCV002027248 | uncertain significance | Glycogen storage disease, type II | 2021-09-05 | criteria provided, single submitter | clinical testing |