ClinVar Miner

Submissions for variant NM_002633.3(PGM1):c.112A>T (p.Asn38Tyr)

dbSNP: rs587777402
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000119800 SCV001386315 pathogenic PGM1-congenital disorder of glycosylation 2022-04-26 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with tyrosine, which is neutral and polar, at codon 38 of the PGM1 protein (p.Asn38Tyr). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with PGM1-CDG (PMID: 24499211, 26768186, 27206562). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 133287). 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. Experimental studies have shown that this missense change affects PGM1 function (PMID: 25288802). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000119800 SCV000154725 pathogenic PGM1-congenital disorder of glycosylation 2014-02-06 no assertion criteria provided literature only

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