ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.8182dup (p.Glu2728fs) (rs1554109187)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000181373 SCV000233674 not provided not provided no assertion provided clinical testing The c.8182dupG variant in the DSP gene has not been published as a pathogenic variant or as a benign polymorphism to our knowledge. This 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. This nucleotide insertion causes a shift in reading frame beginning with Glutamic acid 2728, changing it to a Glycine, and creating a premature stop codon at position 11 of the new reading frame (p.Glu2728Glyfsx11). This variant is expected to result in an abnormal, truncated protein product.

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