ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.6535_6537AAG[1] (p.Lys2180del) (rs761044651)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000599129 SCV000710137 uncertain significance not specified 2017-11-28 criteria provided, single submitter clinical testing The c.6538_6540delAAG variant in the DSP gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant causes an in-frame deletion of codon Lysine 2180, denoted p.Lys2180del. The c.6538_6540delAAG variant is not observed in large population cohorts (Lek et al., 2016). In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. Therefore, we interpret c.6538_6540delAAG as a variant of uncertain significance.

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