ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.3829C>T (p.Gln1277Ter) (rs397516933)

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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 RCV000038031 SCV000061697 likely pathogenic Arrhythmogenic right ventricular cardiomyopathy 2011-12-23 criteria provided, single submitter clinical testing The Gln1277X variant (DSP) has not been previously reported or identified by our laboratory. It leads to a premature stop at codon 1277, which is expected to le ad to a truncated or absent protein, and therefore, a heterozygous loss of funct ion of the DSP gene. Pathogenic loss of function variants in the DSP gene have b een described in patients with ARVC. Please note, an alternatively spliced trans cript in DSP is not predicted to be affected by this variant. In summary, the Gl n1277X variant is very likely sufficient to cardiomyopathy but additional data i s required to further access its pathogenicity.

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