ClinVar Miner

Submissions for variant NM_177559.3(CSNK2A1):c.239G>A (p.Arg80His) (rs1057518092)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000413359 SCV000491489 likely pathogenic not provided 2016-06-09 criteria provided, single submitter clinical testing The R80H variant in the CSNK2A1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The R80H variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The R80H variant is a conservative amino acid substitution, which occurs at a position that is conserved across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. The R80H variant is a strong candidate for a pathogenic variant, however the possibility it may be a rare benign variant cannot be excluded.
GenomeConnect, ClinGen RCV000509105 SCV000606973 not provided CSNK2A1- Related Disorders no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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