ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.1673_1675AGA[1] (p.Lys559del) (rs1064795615)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000480695 SCV000571593 uncertain significance not provided 2017-04-20 criteria provided, single submitter clinical testing The c.1676_1678delAGA variant of uncertain significance has not been published as pathogenic or been reported as benign to our knowledge. This variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The c.1676_1678delAGA variant results in an in-frame deletion of a Lysine residue at codon 559, denoted p.K559del, and does not result in a shift in reading frame or a premature stop codon. Three other in-frame deletions in the DSP gene have been reported in the Human Gene Mutation Database in association with ARVC (Stenson et al., 2014). In the absence of functional mRNA studies, however, the physiological consequence of this variant cannot be precisely determined. Therefore, based on the currently available information, it is unclear whether this variant is pathogenic or rare benign.

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