ClinVar Miner

Submissions for variant NM_144573.4(NEXN):c.1618A>G (p.Met540Val)

gnomAD frequency: 0.00113  dbSNP: rs201390657
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001711351 SCV000236136 likely benign not provided 2020-10-19 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 28087566)
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000213635 SCV000270615 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing p.Met540Val in exon 12 of NEXN: This variant is not expected to have clinical si gnificance because it has been identified in 0.5% (16/3034) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS;).
Invitae RCV000547608 SCV000648479 benign Dilated cardiomyopathy 1CC; Hypertrophic cardiomyopathy 20 2024-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000618620 SCV000737367 likely benign Cardiovascular phenotype 2018-06-19 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001170733 SCV001333336 benign Cardiomyopathy 2017-12-01 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000213635 SCV004038703 likely benign not specified 2023-08-19 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000213635 SCV001923065 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001711351 SCV001973495 likely benign not provided no assertion criteria provided clinical testing

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