ClinVar Miner

Submissions for variant NM_006393.3(NEBL):c.1028A>G (p.Tyr343Cys)

dbSNP: rs876657925
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000223031 SCV000272193 uncertain significance not specified 2015-11-13 criteria provided, single submitter clinical testing The p.Tyr343Cys variant in NEBL has not been previously reported in individuals with cardiomyopathies and was absent from large population studies. Computation al prediction tools and conservation analysis suggest that this variant may impa ct the protein, though this information is not predictive enough to determine pa thogenicity. In summary, the clinical significance of the p.Tyr343Cys variant is uncertain.
Labcorp Genetics (formerly Invitae), Labcorp RCV002518180 SCV003512415 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 disruptive. ClinVar contains an entry for this variant (Variation ID: 229039). This missense change has been observed in individual(s) with clinical features of NEBL-related conditions (PMID: 29247119). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 343 of the NEBL protein (p.Tyr343Cys).
Breakthrough Genomics, Breakthrough Genomics RCV004692836 SCV005190672 uncertain significance not provided criteria provided, single submitter not provided

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