Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000001214 | SCV003441089 | uncertain significance | Glycogen storage disease, type VII | 2022-07-16 | criteria provided, single submitter | clinical testing | Experimental studies have shown that this missense change affects PFKM function (PMID: 22995305). 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 1155). This missense change has been observed in individual(s) with clinical features of glycogen storage disease (PMID: 7513946). This variant is present in population databases (rs121918194, gnomAD 0.004%). This sequence change replaces aspartic acid, which is acidic and polar, with alanine, which is neutral and non-polar, at codon 543 of the PFKM protein (p.Asp543Ala). |
OMIM | RCV000001214 | SCV000021364 | pathogenic | Glycogen storage disease, type VII | 1994-05-01 | no assertion criteria provided | literature only |