ClinVar Miner

Submissions for variant NM_144573.4(NEXN):c.856C>T (p.Arg286Trp)

gnomAD frequency: 0.00009  dbSNP: rs199917913
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001704885 SCV000236122 uncertain significance not provided 2020-05-29 criteria provided, single submitter clinical testing Reported in an individual with left ventricular hypertrabeculation, although no additional clinical or segregation data were provided (Miszalski-Jamka et al., 2017); Reported in ClinVar as a variant of uncertain significance or likely benign variant by other clinical laboratories (ClinVar Variant ID# 201919; Landrum et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 28798025)
Ambry Genetics RCV000252316 SCV000318035 likely benign Cardiovascular phenotype 2018-06-29 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000456476 SCV000549232 likely benign Dilated cardiomyopathy 1CC; Hypertrophic cardiomyopathy 20 2023-12-01 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV000623726 SCV000740645 uncertain significance Primary familial hypertrophic cardiomyopathy 2016-08-31 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001170498 SCV001333081 benign Cardiomyopathy 2018-09-14 criteria provided, single submitter clinical testing

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