Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000697752 | SCV000826380 | uncertain significance | Glycogen storage disease, type VI | 2021-08-13 | criteria provided, single submitter | clinical testing | This sequence change replaces aspartic acid with asparagine at codon 528 of the PYGL protein (p.Asp528Asn). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and asparagine. This variant is present in population databases (rs138461745, ExAC 0.06%). This missense change has been observed in individual(s) with clinical features of PYGL-related conditions (Invitae). 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: "Benign"; Align-GVGD: "Class C15"). 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. |
Fulgent Genetics, |
RCV000697752 | SCV000896400 | uncertain significance | Glycogen storage disease, type VI | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000697752 | SCV001522875 | uncertain significance | Glycogen storage disease, type VI | 2019-11-19 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Ambry Genetics | RCV002533499 | SCV003544416 | uncertain significance | Inborn genetic diseases | 2021-07-14 | criteria provided, single submitter | clinical testing | The c.1582G>A (p.D528N) alteration is located in exon 13 (coding exon 13) of the PYGL gene. This alteration results from a G to A substitution at nucleotide position 1582, causing the aspartic acid (D) at amino acid position 528 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Gene |
RCV003442040 | SCV004170421 | uncertain significance | not provided | 2023-05-16 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |