ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.3415_3417delinsG (p.Tyr1139fs) (rs1064794616)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000478280 SCV000569583 pathogenic not provided 2017-01-20 criteria provided, single submitter clinical testing Although the c.3415_3417delTATinsG pathogenic variant in the DSP gene has not been reported to our knowledge, this variant causes a shift in reading frame starting at codon Tyrosine 1139, changing it to a Glycine, and creating a premature stop codon at position 10 of the new reading frame, denoted p.Tyr1139GlyfsX10. This likely pathogenic variant is expected to result in either an abnormal, truncated protein product or loss of protein from this allele through nonsense-mediated mRNA decay. Other frameshift variants in the DSP gene have been reported in HGMD in association with DSP-related disorders, including ARVC (Stenson et al., 2014). Furthermore, the c.3415_3417delTATinsG 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.

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