ClinVar Miner

Submissions for variant NM_144573.4(NEXN):c.1234A>G (p.Arg412Gly)

gnomAD frequency: 0.00001  dbSNP: rs768693715
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000219409 SCV000272209 uncertain significance not specified 2015-05-16 criteria provided, single submitter clinical testing The p.Arg412Gly variant in NEXN has not been previously reported in individuals with cardiomyopathy, but has been identified in 1/15358 South Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org). Comp utational prediction tools and conservation analysis suggest that the variant ma y impact the protein, though this information is not predictive enough to determ ine pathogenicity. In summary, the clinical significance of the p.Arg412Gly vari ant is uncertain.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001798706 SCV002043701 uncertain significance Cardiomyopathy 2022-09-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV003165543 SCV003854149 uncertain significance Cardiovascular phenotype 2022-12-07 criteria provided, single submitter clinical testing The p.R412G variant (also known as c.1234A>G), located in coding exon 9 of the NEXN gene, results from an A to G substitution at nucleotide position 1234. The arginine at codon 412 is replaced by glycine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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