ClinVar Miner

Submissions for variant NM_001008537.3(NEXMIF):c.1786A>G (p.Asn596Asp)

gnomAD frequency: 0.00001  dbSNP: rs1404043155
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004026905 SCV000851077 uncertain significance not specified 2016-06-07 criteria provided, single submitter clinical testing The p.N596D variant (also known as c.1786A>G), located in coding exon 2 of the KIAA2022 gene, results from an A to G substitution at nucleotide position 1786. The asparagine at codon 596 is replaced by aspartic acid, an amino acid with highly similar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6503 samples with coverage at this position. This amino acid position is 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001862075 SCV002299573 benign not provided 2022-11-01 criteria provided, single submitter clinical testing

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