ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.2920del (p.Thr974fs) (rs727505260)

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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 RCV000156783 SCV000206504 likely pathogenic Arrhythmogenic right ventricular cardiomyopathy 2014-08-22 criteria provided, single submitter clinical testing The Thr974fs variant in DSP has not been previously reported in individuals with cardiomyopathy. Data from large population studies is insufficient to assess th e frequency of this variant. This variant is predicted to cause a frameshift, wh ich alters the protein?s amino acid sequence beginning at position 974 and lead to a premature termination codon 3 amino acids downstream. This alteration is th en predicted to lead to a truncated or absent protein. Frameshift and nonsense v ariants in DSP have been reported in patients with ARVC (http://arvcdatabase.inf o/), but recent evidence supports that they can also cause DCM (Pugh 2014). In s ummary, although additional studies are required to fully establish its clinical significance, the Thr974fs variant is likely pathogenic.

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