ClinVar Miner

Submissions for variant NM_144573.4(NEXN):c.989AAG[2] (p.Glu332del) (rs727505124)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000156581 SCV000206300 uncertain significance not specified 2015-08-12 criteria provided, single submitter clinical testing The p.Glu332del variant in NEXN has been identified by our laboratory in 1 Cauca sian adult with HCM. This variant has also been identified in 12/16490 of South Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadin; dbSNP rs727505124). This variant is a deletion of 1 amino acid at p osition 332 and is not predicted to alter the protein reading-frame. It is uncle ar if this deletion will impact the protein. In summary, the clinical significan ce of the p.Glu332del variant is uncertain.
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769820 SCV000901246 uncertain significance Cardiomyopathy 2017-10-13 criteria provided, single submitter clinical testing

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