ClinVar Miner

Submissions for variant NM_000292.3(PHKA2):c.3424_3425insT (p.Glu1142fs)

dbSNP: rs2047490848
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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 RCV001209837 SCV001381289 pathogenic Glycogen storage disease IXa1 2023-07-14 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the PHKA2 protein in which other variant(s) (p.Pro1205Leu) have been determined to be pathogenic (PMID: 7847371, 9870210, 21646031, 21911307, 24055370, 25266922, 28468868). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 940284). This variant has not been reported in the literature in individuals affected with PHKA2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu1142Valfs*61) in the PHKA2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 94 amino acid(s) of the PHKA2 protein.

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