ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.7186T>A (p.Tyr2396Asn) (rs863225268)

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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 RCV000201903 SCV000256649 uncertain significance Ventricular fibrillation, idiopathic 2015-08-12 criteria provided, single submitter research The DSP Tyr2396Asn is a novel variant. It is absent from both the 1000 genomes project (http://www.1000genomes.org/), and the Exome Aggregation Consortium dataset (http://exac.broadinstitute.org/). We identified this variant in a clinically unaffected female, whose brother has idiopathic VF. Both patients also have a second variant (LMNA Thr27Ser) which is classified as a variant of "uncertain significance". Computational tools SIFT, MutationTaster, and PolyPhen-2 predict this variant to have a deleterious effect. Based on its absence in the general population and our limited familial data, we classify DSP Tyr2396Asn as variant of "uncertain significance".

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