ClinVar Miner

Submissions for variant NM_015599.3(PGM3):c.787+5G>A

gnomAD frequency: 0.00001  dbSNP: rs779711753
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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 RCV001933392 SCV002190353 uncertain significance Immunodeficiency 23 2022-06-09 criteria provided, single submitter clinical testing This sequence change falls in intron 7 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. This variant is present in population databases (rs779711753, gnomAD 0.01%). This variant has been observed in individual(s) with clinical features of PGM3-related conditions (PMID: 32506361). This variant is also known as c.787+5G>A. Variants that disrupt 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 disrupt the consensus splice site. 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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