ClinVar Miner

Submissions for variant NM_144573.4(NEXN):c.1029G>A (p.Ala343=)

gnomAD frequency: 0.00023  dbSNP: rs374260457
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Total submissions: 5
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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 RCV000154798 SCV000204478 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing Ala343Ala in exon 9 of NEXN: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue and is not located withi n the splice consensus sequence. It has been identified in 1/3722 African Americ an chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.e du/EVS). Ala343Ala in exon 9 of NEXN (allele freq = 1/3722)**
GeneDx RCV000154798 SCV000513925 benign not specified 2015-07-22 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000545192 SCV000648473 likely benign Dilated cardiomyopathy 1CC; Hypertrophic cardiomyopathy 20 2023-08-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV000620851 SCV000740031 likely benign Cardiovascular phenotype 2016-09-24 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001812130 SCV002049059 likely benign not provided 2020-10-01 criteria provided, single submitter clinical testing

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