ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.2794-4dup (rs397516924)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000038016 SCV000061682 uncertain significance not specified 2015-01-28 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The c.2794-4_2794-3 insA variant in DSP has been previously reported by our laboratory in 2 African American individuals, 1 with DCM and 1 with an unspecified cardiomyopathy. It h as also been identified in 0.1% (12/10132) of African chromosomes by the Exome A ggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs397516924). This variant is located in the 3' splice region. Computational tools do not sug gest an impact to splicing. However, this information is not predictive enough t o rule out pathogenicity. In summary, while the clinical significance of the c.2 794-4_2794-3insA variant is uncertain, its frequency suggests that it is more li kely to be benign.
GeneDx RCV000038016 SCV000718520 likely benign not specified 2017-04-17 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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