ClinVar Miner

Submissions for variant NM_002633.3(PGM1):c.1411G>A (p.Ala471Thr)

dbSNP: rs148979330
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000320467 SCV000358658 uncertain significance PGM1-congenital disorder of glycosylation 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000379588 SCV000358659 uncertain significance Congenital disorder of glycosylation 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000320467 SCV003291986 uncertain significance PGM1-congenital disorder of glycosylation 2022-05-20 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 297889). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 471 of the PGM1 protein (p.Ala471Thr). This variant is present in population databases (rs148979330, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with PGM1-related conditions. 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. 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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