ClinVar Miner

Submissions for variant NM_006393.3(NEBL):c.1439T>C (p.Ile480Thr)

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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 RCV002979419 SCV003291963 uncertain significance Primary dilated cardiomyopathy 2023-07-22 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: 2076703). This missense change has been observed in individual(s) with clinical features of dilated cardiomyopathy (PMID: 31737537). This variant is present in population databases (rs201325130, gnomAD 0.03%). This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 480 of the NEBL protein (p.Ile480Thr).

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