ClinVar Miner

Submissions for variant NM_006393.3(NEBL):c.2747C>T (p.Pro916Leu)

dbSNP: rs143149169
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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 RCV000529056 SCV000623477 uncertain significance Primary dilated cardiomyopathy 2024-01-22 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 916 of the NEBL protein (p.Pro916Leu). This variant is present in population databases (rs143149169, gnomAD 0.02%). This missense change has been observed in individual(s) with left ventricular noncompaction (PMID: 27186169). ClinVar contains an entry for this variant (Variation ID: 454272). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The leucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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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