ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.4526G>A (p.Arg1509Lys) (rs577061462)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000221227 SCV000271729 uncertain significance not specified 2015-03-11 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Arg1509Lys va riant in DSP has not been previously reported in individuals with cardiomyopathy , but has been identified in 0.1% (19/16428) of South Asian chromosomes by the E xome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs57706 1462). Computational prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. In summary, while the cl inical significance of the p.Arg1509Lys variant is uncertain, its frequency sugg ests that it is more likely to be benign.
Invitae RCV000641844 SCV000763494 likely benign not provided 2018-01-31 criteria provided, single submitter clinical testing
Color RCV000771205 SCV000903210 uncertain significance Cardiomyopathy 2018-10-18 criteria provided, single submitter clinical testing Variant of Uncertain Significance due to insufficient evidence: This missense variant is located in the coiled coil rod domain of the DSP protein. Computational prediction tools and conservation analyses are inconclusive regarding the impact of this variant on the protein function. Computational splicing tools suggest that this variant may not impact the RNA splicing. To our knowledge, functional assays have not been performed for this variant. This variant has been identified in 43/30734 South Asian chromosomes (0.14%) by the Genome Aggregation Database (gnomAD). Although the relatively high frequency of this variant in the general population suggests that it is unlikely to be disease-causing, available evidence is insufficient to rule out the pathogenicity of this variant conclusively.

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