ClinVar Miner

Submissions for variant NM_017649.5(CNNM2):c.1734A>C (p.Lys578Asn)

dbSNP: rs1064795292
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000483858 SCV000570964 uncertain significance not provided 2016-07-15 criteria provided, single submitter clinical testing The K578N variant in the CNNM2 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The K578N variant was not observed in approximately 6,000 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 K578N variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is highly conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret K578N as a variant of uncertain significance.

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