ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.2297+1G>A (rs1057523629)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000441801 SCV000532787 likely pathogenic not provided 2016-10-18 criteria provided, single submitter clinical testing The c.2297+1G>A variant in the DSP gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This splice site variant destroys the canonical splice donor site in intron 16. It is predicted to cause abnormal gene splicing, either leading to an abnormal message that is subject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used for protein translation. The c.2297+1G>A variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Splice site variants are known to be pathogenic in the DSP gene associated with arrhythmogenic right ventricular cardiomyopathy (Stenson et al., 2014). Based on the ACMG recommendations for incidental findings, c.2297+1G>A is reportable as an expected pathogenic variant.

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