ClinVar Miner

Submissions for variant NM_000292.3(PHKA2):c.772G>A (p.Gly258Arg)

dbSNP: rs2147962993
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002243544 SCV002512213 uncertain significance Glycogen storage disease IXa1 2022-01-05 criteria provided, single submitter clinical testing ACMG classification criteria: PM2 moderate, PP3 supporting
Labcorp Genetics (formerly Invitae), Labcorp RCV002243544 SCV003321612 uncertain significance Glycogen storage disease IXa1 2022-10-26 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 258 of the PHKA2 protein (p.Gly258Arg). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with clinical features of glycogen storage disease type IXa (Invitae). ClinVar contains an entry for this variant (Variation ID: 1683501). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt PHKA2 protein function. 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.

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