ClinVar Miner

Submissions for variant NM_006393.3(NEBL):c.994G>A (p.Val332Ile)

gnomAD frequency: 0.00065  dbSNP: rs150518045
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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 RCV000151541 SCV000199669 likely benign not specified 2013-09-26 criteria provided, single submitter clinical testing Val332Ile in exon 10 of NEBL: This variant is not expected to have clinical sign ificance due to a lack of conservation across species, including mammals. Of not e, multiple primates have an isoleucine (Ile) at this position, despite high nea rby amino acid conservation. In addition, computational analyses (AlignGVGD, Pol yPhen2, SIFT) do not suggest a high likelihood of impact to the protein. This va riant has also been identified in 0.2% (10/4406) of African American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/; dbSNP rs150518045).
GeneDx RCV001704090 SCV000236081 likely benign not provided 2021-01-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000868137 SCV001009435 likely benign Primary dilated cardiomyopathy 2024-01-05 criteria provided, single submitter clinical testing

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