ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.7487_7488TG[2] (p.Cys2497_Glu2498delinsTer) (rs754354190)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000413878 SCV000491072 likely pathogenic not provided 2016-07-27 criteria provided, single submitter clinical testing The c.7491_7492delTG variant in the DSP gene has not been reported as a pathogenic variant or as a benign variant to our knowledge. The c.7491_7492delTG variant results in the deletion of two base pairs, which leads to the replacement of a Cysteine residue with a premature stop codon at position 2497, denoted C2497X. This variant is expected to result in the loss of the last 375 amino acids causing an abnormal, truncated protein product. Multiple other downstream truncating variants in the DSP gene have been reported in HGMD in association with DSP-related disorders, including dilated cardiomyopathy (Stenson et al., 2014). Furthermore, the c.7491_7492delTG variant 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.
Stanford Center for Inherited Cardiovascular Disease, Stanford University RCV000413878 SCV000924775 likely pathogenic not provided 2017-08-16 no assertion criteria provided provider interpretation

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