ClinVar Miner

Submissions for variant NM_144573.4(NEXN):c.512T>C (p.Ile171Thr)

gnomAD frequency: 0.00035  dbSNP: rs372065024
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001701784 SCV000236120 likely benign not provided 2020-11-04 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000183651 SCV000270616 likely benign not specified 2015-06-09 criteria provided, single submitter clinical testing p.Ile171Thr in exon 7 of NEXN: This variant is not expected to have clinical sig nificance because it has been identified in 0.9% (76/8584) of East Asian chromos omes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs372065024).
Invitae RCV000542710 SCV000648484 benign Dilated cardiomyopathy 1CC; Hypertrophic cardiomyopathy 20 2024-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000619570 SCV000736019 likely benign Cardiovascular phenotype 2018-07-27 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 RCV000768801 SCV000900173 uncertain significance Cardiomyopathy 2016-11-21 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000183651 SCV001925727 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001701784 SCV001928160 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001701784 SCV001973525 likely benign not provided no assertion criteria provided clinical testing

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