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 (http://www.1000genomes.org/), as well as the Exome Aggregation Consortium dataset (http://exac.broadinstitute.org/). 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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