ClinVar Miner

Submissions for variant NM_002637.4(PHKA1):c.1151A>G (p.Tyr384Cys)

gnomAD frequency: 0.00007  dbSNP: rs782509826
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001090314 SCV001245773 uncertain significance not provided 2020-01-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002557948 SCV002936866 uncertain significance Glycogen storage disease IXd 2022-09-01 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with PHKA1-related conditions. 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 870720). This variant is present in population databases (rs782509826, gnomAD 0.03%). This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 384 of the PHKA1 protein (p.Tyr384Cys).

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