Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Clinical Services Laboratory, |
RCV000397885 | SCV000358642 | uncertain significance | Congenital disorder of glycosylation type 1t | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Clinical Services Laboratory, |
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. |