ClinVar Miner

Submissions for variant NM_144573.3(NEXN):c.1477G>A (p.Asp493Asn) (rs1553241790)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000619366 SCV000740059 uncertain significance Cardiovascular phenotype 2016-10-31 criteria provided, single submitter clinical testing The p.D493N variant (also known as c.1477G>A), located in coding exon 11 of the NEXN gene, results from a G to A substitution at nucleotide position 1477. The aspartic acid at codon 493 is replaced by asparagine, 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), Exome Aggregation Consortium (ExAC), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 5923 samples (11846 alleles) with coverage at this position. This amino acid position is poorly 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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