ClinVar Miner

Submissions for variant NM_000292.3(PHKA2):c.3329_3336+6del

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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 RCV003525488 SCV004247873 pathogenic Glycogen storage disease IXa1 2023-12-15 criteria provided, single submitter clinical testing This variant results in the deletion of part of exon 31 (c.3329_3336+6del) of the PHKA2 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in PHKA2 are known to be pathogenic (PMID: 7711737, 10330341). This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with PHKA2-related conditions (Invitae). For these reasons, this variant has been classified as Pathogenic.

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