Submissions for variant NM_006393.3(NEBL):c.801G>T (p.Val267=)

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV004055389	SCV002680006	likely benign	not specified	2022-08-16	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Labcorp Genetics (formerly Invitae), Labcorp	RCV003099822	SCV003452599	uncertain significance	Primary dilated cardiomyopathy	2022-02-18	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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This variant has not been reported in the literature in individuals affected with NEBL-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.01%). This sequence change affects codon 267 of the NEBL mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the NEBL protein.