ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.8574_8575CT[1] (p.Ser2859fs) (rs727504909)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000156294 SCV000206012 uncertain significance not specified 2014-02-17 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Pathogenic. The Ser2859fs v ariant in DSP has not been reported in individuals with cardiomyopathy or in lar ge population studies. This frameshift variant is predicted to alter the protein ?s amino acid sequence beginning at position 2859 and leads to a premature termi nation codon 6 amino acids downstream, resulting in a loss of the last 6 amino a cids of the DSP protein and may not. It is unclear if this variant would undergo nonsense mediated decay and cause a loss of function variant. However, homozygo us variants that truncate the tail of the DSP protein have been reported in indi viduals with Carvajal syndrome and/or acantholytic epidermolysis bullosa (Cheong 2005, Jonkman 2005, Rasmussen 2013). Although this data supports that the Ser28 59fs variant may be pathogenic in homozygous configuration, additional studies a re needed to fully assess its clinical significance.

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