ClinVar Miner

Submissions for variant NM_144573.4(NEXN):c.893C>G (p.Thr298Arg) (rs200753280)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000041186 SCV000064877 uncertain significance not specified 2015-09-09 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Thr298Arg var iant in NEXN has been identified by our laboratory in 1 Ashkenazi Jewish adult w ith HCM and 1 Caucasian adult with HCM. It has also been identified in 12/66354 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broa dinstitute.org; dbSNP rs200753280). Threonine at position 298 is not conserved i n evolution and 1 mammal (mouse) has an arginine (Arg) at this position, raising the possibility that this change may be tolerated. In summary, while the clinic al significance of the p.Thr298Arg variant is uncertain, these data suggest that it is more likely to be benign.
Ambry Genetics RCV000246908 SCV000317745 likely benign Cardiovascular phenotype 2018-11-21 criteria provided, single submitter clinical testing In silico models in agreement (benign);Other data supporting benign classification
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000308250 SCV000492839 uncertain significance Hypertrophic cardiomyopathy 2015-02-23 criteria provided, single submitter clinical testing
Invitae RCV000456968 SCV000549238 likely benign Dilated cardiomyopathy 1CC; Familial hypertrophic cardiomyopathy 20 2020-03-23 criteria provided, single submitter clinical testing
GeneDx RCV001698953 SCV000589469 likely benign not provided 2018-05-29 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27532257)
Clinical Genetics,Academic Medical Center RCV001698953 SCV001919064 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001698953 SCV001928407 likely benign not provided no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV001698953 SCV001959543 likely benign not provided no assertion criteria provided clinical testing

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