ClinVar Miner

Submissions for variant NM_000290.4(PGAM2):c.755C>A (p.Ala252Asp)

gnomAD frequency: 0.00006  dbSNP: rs752958758
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001370064 SCV001566525 uncertain significance Glycogen storage disease type X 2022-08-06 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 252 of the PGAM2 protein (p.Ala252Asp). This variant is present in population databases (rs752958758, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with PGAM2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1060608). 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: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
Baylor Genetics RCV001370064 SCV004041094 uncertain significance Glycogen storage disease type X 2023-06-27 criteria provided, single submitter clinical testing

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