ClinVar Miner

Submissions for variant NM_006393.3(NEBL):c.1243G>A (p.Asp415Asn)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004056271 SCV002674511 uncertain significance not specified 2024-09-11 criteria provided, single submitter clinical testing The p.D415N variant (also known as c.1243G>A), located in coding exon 13 of the NEBL gene, results from a G to A substitution at nucleotide position 1243. The aspartic acid at codon 415 is replaced by asparagine, an amino acid with highly similar 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003619780 SCV004448750 uncertain significance Primary dilated cardiomyopathy 2023-06-17 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with NEBL-related conditions. 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. 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. ClinVar contains an entry for this variant (Variation ID: 1758901). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 415 of the NEBL protein (p.Asp415Asn).

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