ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.273del (p.Glu92fs) (rs794728136)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000181357 SCV000233658 pathogenic not provided 2014-06-23 criteria provided, single submitter clinical testing Although the c.273delT mutation in the DSP gene has not been reported to our knowledge, this mutation causes a shift in reading frame starting at codon Glutamic acid 92, changing it to an Asparagine, and creating a premature stop codon at position 2 of the new reading frame, denoted p.Glu92AsnfsX2. This mutation is expected to result in either an abnormal, truncated protein product or loss of protein from this allele through nonsense-mediated mRNA decay. Other frameshift mutations in the DSP gene have been reported in association with cardiomyopathy. In summary, c.273delT in the DSP gene is interpreted as a disease-causing mutation.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000599677 SCV000712422 likely pathogenic Primary dilated cardiomyopathy; Arrhythmogenic right ventricular cardiomyopathy 2016-09-20 criteria provided, single submitter clinical testing The p.Glu92fs variant in DSP has not been previously reported in individuals wit h cardiomyopathy, and was absent from large population studies. This variant is predicted to cause a frameshift, which alters the protein?s amino acid sequence beginning at position 92 and leads to a premature termination codon 2 amino acid s downstream. This alteration is then predicted to lead to a truncated or absent protein. Heterozygous loss of function of the DSP gene is an established diseas e mechanism in individuals with ARVC and/or DCM. In summary, although additional studies are required to fully establish its clinical significance, the p.Glu92f s variant is likely pathogenic.

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