ClinVar Miner

Submissions for variant NM_015599.3(PGM3):c.1029+5T>G

dbSNP: rs2128493694
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002045187 SCV002296380 uncertain significance Immunodeficiency 23 2020-11-26 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with PGM3-related conditions. 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. Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This variant is not present in population databases (ExAC no frequency). This sequence change falls in intron 9 of the PGM3 gene. It does not directly change the encoded amino acid sequence of the PGM3 protein. It affects a nucleotide within the consensus splice site of the intron.

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