ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.4824dup (p.Ala1609fs) (rs727503003)

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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 RCV000150573 SCV000197829 likely pathogenic Primary dilated cardiomyopathy; Arrhythmogenic right ventricular cardiomyopathy 2013-08-09 criteria provided, single submitter clinical testing The Ala1609fs variant in DSP has not been reported in individuals with cardiomyo pathy. This frameshift variant is predicted to alter the protein?s amino acid se quence beginning at position 1609 and lead to a premature termination codon 18 a mino acids downstream. This alteration is then predicted to lead to a truncated or absent protein. Truncating variants in the DSP gene have been described in pa tients with ARVC (http://arvcdatabase.info/). In summary, this variant is likely to be pathogenic, though additional studies are required to fully establish its clinical significance.

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