ClinVar Miner

Submissions for variant NM_000289.6(PFKM):c.1628A>C (p.Asp543Ala)

gnomAD frequency: 0.00002  dbSNP: rs121918194
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Total submissions: 2
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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

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