ClinVar Miner

Submissions for variant NM_001008537.3(NEXMIF):c.1520G>A (p.Arg507Lys)

gnomAD frequency: 0.00001  dbSNP: rs778472603
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001575139 SCV001802063 likely benign not provided 2020-04-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV004039434 SCV002754850 uncertain significance not specified 2018-09-29 criteria provided, single submitter clinical testing The p.R507K variant (also known as c.1520G>A), located in coding exon 2 of the KIAA2022 gene, results from a G to A substitution at nucleotide position 1520. The arginine at codon 507 is replaced by lysine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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