ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.3160_3169del (p.Lys1054fs) (rs397516932)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000480618 SCV000566973 pathogenic not provided 2015-06-23 criteria provided, single submitter clinical testing The c.3160_3169del10 variant in the DSP gene has been reported in at least one individual enrolled in theJohns Hopkins ARVD/C registry (Bhonsale et al., 2013). This deletion causes a shift in reading framestarting at codon Lysine 1054, changing it to a Serine, and creating a premature stop codon at position 26of the new reading frame, denoted p.Lys1054SerfsX26. This deletion is expected to result in either anabnormal, truncated protein product or loss of protein from this allele through nonsense-mediated mRNAdecay. Other frameshift variants in the DSP gene have been reported in HGMD in association withcardiomyopathy (Stenson P et al., 2014). Furthermore, the c.3160_3169del10 variant was not observed inapproximately 6,500 individuals of European and African American ancestry in the NHLBI ExomeSequencing Project, indicating it is not a common benign variant in these populations.In summary, c.3160_3169del10 in the DSP gene is interpreted as a pathogenic variant.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000038027 SCV000061693 likely pathogenic Arrhythmogenic right ventricular cardiomyopathy 2007-11-16 no assertion criteria provided clinical testing

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