ClinVar Miner

Submissions for variant NM_000292.3(PHKA2):c.3708G>C (p.Ter1236Tyr)

dbSNP: rs2047465246
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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 RCV001213413 SCV001385042 uncertain significance Glycogen storage disease IXa1 2022-01-19 criteria provided, single submitter clinical testing 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 943259). This protein extension has been observed in individual(s) with clinical features of PHKA2-related conditions (Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change disrupts the translational stop signal of the PHKA2 mRNA. It is expected to extend the length of the PHKA2 protein by 17 additional amino acid residues.

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