ClinVar Miner

Submissions for variant NM_006393.3(NEBL):c.2323del (p.Glu775fs)

gnomAD frequency: 0.00004  dbSNP: rs776502857
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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 RCV000700657 SCV000829421 uncertain significance Primary dilated cardiomyopathy 2023-09-21 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 577817). This variant has not been reported in the literature in individuals affected with NEBL-related conditions. This variant is present in population databases (rs776502857, gnomAD 0.03%). This sequence change creates a premature translational stop signal (p.Glu775Lysfs*9) in the NEBL gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in NEBL cause disease.

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