ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.2955del (p.Val986fs) (rs1064794709)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000485291 SCV000569777 likely pathogenic not provided 2016-03-29 criteria provided, single submitter clinical testing Although the c.2955delT likely pathogenic variant in the DSG2 gene has not been reported to our knowledge, this variant causes a shift in reading frame starting at codon Valine 986, changing it to a Tryptophan, and creating a premature stop codon at position 6 of the new reading frame, denoted p.Val986TrpfsX6. This variant is expected to result in an abnormal, truncated protein product. Furthermore, the c.2955delT variant was not observed in approximately 6,100 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations.
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV000496079 SCV000584086 pathogenic Dilated cardiomyopathy 1BB 2015-09-04 criteria provided, single submitter research

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