ClinVar Miner

Submissions for variant NM_144573.4(NEXN):c.1671GGA[3] (p.Glu562del)

dbSNP: rs397517848
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000183687 SCV000236156 likely benign not provided 2019-02-27 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 31983221)
Labcorp Genetics (formerly Invitae), Labcorp RCV000463861 SCV000549233 uncertain significance Dilated cardiomyopathy 1CC; Hypertrophic cardiomyopathy 20 2023-05-23 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. ClinVar contains an entry for this variant (Variation ID: 201945). This variant has not been reported in the literature in individuals affected with NEXN-related conditions. This variant is present in population databases (rs769530172, gnomAD 0.006%). This variant, c.1680_1682del, results in the deletion of 1 amino acid(s) of the NEXN protein (p.Glu562del), but otherwise preserves the integrity of the reading frame.
Ambry Genetics RCV002399679 SCV002712834 likely benign Cardiovascular phenotype 2021-03-22 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000183687 SCV004565000 uncertain significance not provided 2023-06-15 criteria provided, single submitter clinical testing The NEXN c.1680_1682del; p.Glu562del variant (rs397517848) is reported in the literature in an individual affected with dilated cardiomyopathy (Mazzarotto 2020). This variant is reported in ClinVar (Variation ID: 201945) and is found in the general population with an overall allele frequency of 0.0018% (5/279,708 alleles) in the Genome Aggregation Database. This variant deletes a single glutamate residue leaving the rest of the protein in-frame. Due to limited information, the clinical significance of this variant is uncertain at this time. References: Mazzarotto F et al. Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy. Circulation. 2020 Feb 4;141(5):387-398. PMID: 31983221.

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