ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.273+3A>G (rs794728107)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000181271 SCV000233560 uncertain significance not provided 2018-01-19 criteria provided, single submitter clinical testing c.273+3 A>G: IVS2+3 A>G in intron 2 of the DSP gene (NM_004415.2). Although the c.273+3 A>G variant in the DSP gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge, this variant is predicted to partially or completely destroy the splice donor site in intron 2. Additionally, the c.273+3 A>G 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. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant. The variant is found in CARDIOMYOPATHY panel(s).

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