ClinVar Miner

Submissions for variant NM_002863.5(PYGL):c.1582G>A (p.Asp528Asn)

gnomAD frequency: 0.00016  dbSNP: rs138461745
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Total submissions: 5
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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, 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.
GeneDx 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

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