ClinVar Miner

Submissions for variant NM_006393.3(NEBL):c.798T>C (p.Asn266=)

gnomAD frequency: 0.00001  dbSNP: rs770019579
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001930492 SCV002189780 uncertain significance Primary dilated cardiomyopathy 2021-06-30 criteria provided, single submitter clinical testing This sequence change affects codon 266 of the NEBL mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the NEBL protein. 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. This variant has not been reported in the literature in individuals affected with NEBL-related conditions. This variant is present in population databases (rs770019579, ExAC 0.009%).

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