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 (, as well as the Exome Aggregation Consortium dataset ( 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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