ClinVar Miner

Submissions for variant NM_006393.3(NEBL):c.383A>T (p.Gln128Leu)

dbSNP: rs139809958
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Total submissions: 3
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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 RCV000215497 SCV000272205 uncertain significance not specified 2015-03-11 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Gln128Leu var iant in NEBL has not been previously reported in individuals with cardiomyopathy , but has been identified in 0.2% (19/10400) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs139809958 ). Computational prediction tools and conservation analysis do not provide stron g support for or against an impact to the protein. In summary, while the clinica l significance of the p.Gln128Leu variant is uncertain, its frequency suggests t hat it is more likely to be benign.
GeneDx RCV000767180 SCV000536383 uncertain significance not provided 2018-11-13 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the NEBL gene. The Q128L variant has not been published as pathogenic or been reported as benign to our knowledge. The Q128L variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. Additionally, this substitution occurs at a position that is conserved across species. Furthermore, in silico analysis predicts this variant is probably damaging to the protein structure/function. A missense variant in the same residue (Q128R) has been reported in association with DCM and endocardial fibroelastosis in a newborn (Purevjav et al., 2010); however the pathogenicity of this variant has not been definitively determined. Nevertheless, this variant has been observed in approximately 0.2% of alleles from individual of African ancestry in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server; Exome Aggregation Consortium).
Invitae RCV001087987 SCV001004364 likely benign Primary dilated cardiomyopathy 2023-12-11 criteria provided, single submitter clinical testing

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