ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.3961C>T (p.Gln1321Ter) (rs794728119)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000181309 SCV000233602 pathogenic not provided 2014-08-04 criteria provided, single submitter clinical testing p.Gln1321Stop (CAG>TAG): c.3961 C>T in exon 23 of the DSP gene (NM_004415.2). The Q1321X mutation in the DSP gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. Q1321X is predicted to cause loss of normal protein function either by protein truncation or nonsense-mediated mRNA decay. The Q1321X mutation was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Furthermore, other nonsense mutations in the DSP gene have been reported in association with ARVC. In summary, Q1321X in the DSP gene is interpreted as a disease-causing mutation. The variant is found in CARDIOMYOPATHY panel(s).

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