ClinVar Miner

Submissions for variant NM_006393.3(NEBL):c.348dup (p.Val117fs)

dbSNP: rs1356025751
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000627483 SCV000748483 uncertain significance not provided 2018-03-19 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the NEBL gene. The c.348dupA variant has not been published as pathogenic or been reported as benign to our knowledge. This variant is not observed in large population cohorts (Lek et al., 2016). The c.348dupA variant causes a shift in reading frame starting at codon valine 117, changing it to a serine, and creating a premature stop codon at position 7 of the new reading frame, denoted p.Val117SerfsX7. This variant is expected to result in either an abnormal, truncated protein product or loss of protein from this allele through nonsense-mediated mRNA decay. However, no truncating variants in the NEBL gene have been reported in Human Gene Mutation Database in association with cardiomyopathy (Stenson et al., 2014), and haploinsufficiency is not an established disease mechanism for the NEBL gene.

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