ClinVar Miner

Submissions for variant NM_000289.6(PFKM):c.1727A>T (p.Tyr576Phe)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000800630 SCV000940359 uncertain significance Glycogen storage disease, type VII 2018-07-20 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with phenylalanine at codon 576 of the PFKM protein (p.Tyr576Phe). The tyrosine residue is highly conserved and there is a small physicochemical difference between tyrosine and phenylalanine. This variant is present in population databases (rs370424471, ExAC 0.03%). This variant has not been reported in the literature in individuals with PFKM-related disease. 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 tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.

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