ClinVar Miner

Submissions for variant NM_144573.4(NEXN):c.156C>T (p.Asp52=)

gnomAD frequency: 0.00128  dbSNP: rs371431782
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Total submissions: 7
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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 RCV000223646 SCV000269444 benign not specified 2015-03-21 criteria provided, single submitter clinical testing p.Asp52Asp in exon 3 of NEXN: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 0.4% (43/9728) of Afri can chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinst itute.org; dbSNP rs371431782).
GeneDx RCV000223646 SCV000513923 benign not specified 2015-04-07 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000465499 SCV000560167 benign Dilated cardiomyopathy 1CC; Hypertrophic cardiomyopathy 20 2024-01-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV000622079 SCV000737363 likely benign Cardiovascular phenotype 2015-09-10 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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 RCV001170495 SCV001333078 benign Cardiomyopathy 2018-03-29 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000223646 SCV001920467 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001726046 SCV001967944 likely benign not provided no assertion criteria provided clinical testing

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