ClinVar Miner

Submissions for variant NM_006393.3(NEBL):c.1954A>C (p.Ile652Leu)

gnomAD frequency: 0.00003  dbSNP: rs200756166
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Total submissions: 6
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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 RCV000154790 SCV000204470 likely benign not specified 2015-03-18 criteria provided, single submitter clinical testing p.Ile652Leu in exon 19 of NEBL: This variant is not expected to have clinical si gnificance due to a lack of conservation across species, including mammals. Of n ote, pig, alpaca, camel, and hedgehog have a leucine (Leu) at this position desp ite high nearby amino acid conservation. In addition, computational prediction t ools do not suggest a high likelihood of impact to the protein. It has also been identified in 0.2% (30/16404) of South Asian chromosomes by the Exome Aggregati on Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs200756166).
GeneDx RCV001704123 SCV000236106 likely benign not provided 2021-02-23 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27186169)
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000154790 SCV000258042 likely benign not specified 2015-07-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000866123 SCV001007179 likely benign Primary dilated cardiomyopathy 2023-11-22 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001704123 SCV005227065 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003952764 SCV004775040 likely benign NEBL-related disorder 2024-03-04 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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