ClinVar Miner

Submissions for variant NM_006393.3(NEBL):c.2726G>A (p.Cys909Tyr)

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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 RCV002637076 SCV003514276 uncertain significance Primary dilated cardiomyopathy 2023-04-22 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. 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 tolerated. ClinVar contains an entry for this variant (Variation ID: 2194300). This variant has not been reported in the literature in individuals affected with NEBL-related conditions. This variant is present in population databases (rs779981743, gnomAD 0.003%). This sequence change replaces cysteine, which is neutral and slightly polar, with tyrosine, which is neutral and polar, at codon 909 of the NEBL protein (p.Cys909Tyr).

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