ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.6937del (p.Glu2313fs) (rs794728143)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000505762 SCV000233667 likely pathogenic not provided 2017-05-02 criteria provided, single submitter clinical testing Although the c.6937delG likely pathogenic variant in the DSP gene has not been reported to our knowledge, this variant causes a shift in reading frame starting at codon glutamic acid 2313, changing it to an arginine, and creating a premature stop codon at position 42 of the new reading frame, denoted p.Glu2313ArgfsX42. This likely pathogenic variant is expected to result in an abnormal, truncated protein product. However, it is not expected to result in nonsense-mediated decay. Nevertheless, other frameshift variants in the DSP gene have been reported in Human Gene Mutation Database in association with cardiomyopathy (Stenson et al., 2014). Furthermore, the c.6937delG variant has not been observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server).

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