ClinVar Miner

Submissions for variant NM_144573.3(NEXN):c.1063G>C (p.Asp355His) (rs1553239999)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute RCV000584821 SCV000692492 uncertain significance Familial hypertrophic cardiomyopathy 1 2017-03-09 criteria provided, single submitter research NEXN Asp355His has not been previously reported in literature. We identified this variant in a HCM proband of European descent. The proband has no family history of HCM or sudden cardiac death. The variant is absent in the 1000 genomes project (, as well as the Exome Aggregation Consortium dataset ( Computational tools SIFT, MutationTaster, and PolyPhen-2 predict this variant to have a deleterious effect. In summary based on this limited evidence, and the weak evidence associating NEXN with an HCM phenotype, we classify NEXN Asp355His as a variant of "uncertain significance".

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