ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.4069_4071GAG[1] (p.Glu1358del) (rs777457799)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000483488 SCV000572212 uncertain significance not provided 2017-12-15 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the DSP gene. The c.4072_4074delGAG variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. This in-frame deletion of the nucleotides GAG maintains the reading frame and results in the deletion of a single amino acid, glutamic acid. The c.4072_4074delGAG variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Additionally, this amino acid position is conserved across species. Nevertheless, in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Only one in-frame deletion in the DSP gene has been reported in HGMD in association with ARVC (Stenson P et al., 2009).

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