ClinVar Miner

Submissions for variant NM_000292.3(PHKA2):c.749C>T (p.Ser250Leu)

dbSNP: rs2048489995
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001197079 SCV001367715 uncertain significance Glycogen storage disease IXa1 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The following ACMG criteria were applied in classifying this variant: PM2,PP3. This variant was detected in hemizygous state.
Labcorp Genetics (formerly Invitae), Labcorp RCV001197079 SCV001540742 uncertain significance Glycogen storage disease IXa1 2020-06-06 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. 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: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with PHKA2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with leucine at codon 250 of the PHKA2 protein (p.Ser250Leu). The serine residue is highly conserved and there is a large physicochemical difference between serine and leucine.

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