ClinVar Miner

Submissions for variant NM_006393.3(NEBL):c.738C>G (p.Tyr246Ter)

dbSNP: rs778455217
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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 RCV001877132 SCV002133185 uncertain significance Primary dilated cardiomyopathy 2023-08-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr246*) 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. This variant is present in population databases (rs778455217, gnomAD 0.006%). 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: 1370373). 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.

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