ClinVar Miner

Submissions for variant NM_058004.4(PI4KA):c.5137G>C (p.Asp1713His)

gnomAD frequency: 0.00014  dbSNP: rs142131375
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000203065 SCV000258228 uncertain significance not specified 2015-07-01 criteria provided, single submitter clinical testing
GeneDx RCV003153477 SCV003842790 uncertain significance not provided 2022-09-16 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
PreventionGenetics, part of Exact Sciences RCV004530215 SCV004115109 uncertain significance PI4KA-related disorder 2023-06-02 criteria provided, single submitter clinical testing The PI4KA c.5137G>C variant is predicted to result in the amino acid substitution p.Asp1713His. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.012% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/22-21073090-C-G), which is more common than expected for a disease-causing variant. Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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