ClinVar Miner

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

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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 RCV003747560 SCV004540500 likely pathogenic Immunodeficiency 23 2023-05-24 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 not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with PGM3-related conditions (PMID: 30157810). Studies have shown that this variant alters PGM3 gene expression (PMID: 30157810). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Studies have shown that this variant is associated with altered splicing resulting in multiple RNA products (PMID: 30157810). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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