ClinVar Miner

Submissions for variant NM_006393.3(NEBL):c.986G>T (p.Gly329Val)

gnomAD frequency: 0.00001  dbSNP: rs776185255
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000441379 SCV000516637 likely benign not specified 2015-07-21 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002521556 SCV003458669 uncertain significance Primary dilated cardiomyopathy 2024-03-12 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 329 of the NEBL protein (p.Gly329Val). This variant is present in population databases (rs776185255, gnomAD 0.005%). This variant has not been reported in the literature in individuals affected with NEBL-related conditions. ClinVar contains an entry for this variant (Variation ID: 379503). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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.
Ambry Genetics RCV000441379 SCV003742007 uncertain significance not specified 2023-12-12 criteria provided, single submitter clinical testing The p.G329V variant (also known as c.986G>T), located in coding exon 10 of the NEBL gene, results from a G to T substitution at nucleotide position 986. The glycine at codon 329 is replaced by valine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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