ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.4352T>C (p.Leu1451Pro) (rs1554108296)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000617883 SCV000737770 uncertain significance Cardiovascular phenotype 2016-10-27 criteria provided, single submitter clinical testing Insufficient evidence
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute RCV000853465 SCV000996376 uncertain significance Sudden unexplained death 2017-05-03 criteria provided, single submitter research The DSP Leu1451Pro was identified in a sudden death case, with no previous diagnosis and no definitive cause found on post mortem (Bagnall RD, et al., 2016). The variant is absent from the 1000 genomes project (http://www.1000genomes.org/), as well as the Exome Aggregation Consortium dataset (http://exac.broadinstitute.org/). Computational tools SIFT, PolyPhen-2 and MutationTaster predict this variant to be deleterious. Based on the limited information available and rarity in the general population, we classify DSP Leu1451Pro as a variant of "uncertain significance".

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