ClinVar Miner

Submissions for variant NM_002633.3(PGM1):c.1143C>T (p.Thr381=) (rs140035988)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000397885 SCV000358642 uncertain significance Congenital disorder of glycosylation type 1t 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000306158 SCV000358643 uncertain significance Congenital disorder of glycosylation 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000397885 SCV000769543 uncertain significance Congenital disorder of glycosylation type 1t 2018-12-31 criteria provided, single submitter clinical testing This sequence change affects codon 381 of the PGM1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the PGM1 protein. This variant is present in population databases (rs140035988, ExAC 0.2%). This variant has not been reported in the literature in individuals with PGM1-related conditions. ClinVar contains an entry for this variant (Variation ID: 297881). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing, but this prediction has not been confirmed by published transcriptional studies. 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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