ClinVar Miner

Submissions for variant NM_000289.6(PFKM):c.1413-64A>G

dbSNP: rs1202417178
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001387777 SCV001588493 pathogenic Glycogen storage disease, type VII 2023-08-29 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. Studies have shown that this variant results in the activation of a cryptic splice site in intron 15 (PMID: 8659544). ClinVar contains an entry for this variant (Variation ID: 1074469). This variant is also known as intron 16 (G-64A). This variant has been observed in individual(s) with glycogen storage disease type VII (PMID: 8659544). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. This sequence change falls in intron 15 of the PFKM gene. It does not directly change the encoded amino acid sequence of the PFKM protein. RNA analysis indicates that this variant induces altered splicing and likely results in the gain of 21 amino acid residue(s), but is expected to preserve the integrity of the reading-frame.
Baylor Genetics RCV001387777 SCV005055311 likely pathogenic Glycogen storage disease, type VII 2023-11-06 criteria provided, single submitter clinical testing

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