ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.6442G>A (p.Ala2148Thr) (rs144539278)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000219958 SCV000271740 uncertain significance not specified 2015-10-15 criteria provided, single submitter clinical testing The p.Ala2148Thr variant in DSP has not been previously reported in patients wit h cardiomyopathy but has been identified in 1/16484 of South Asian chromosomes a nd 1/10288 African chromosomes by the Exome Aggregation Consortium (ExAC, http:/ /exac.broadinstitute.org; rs144539278). Computational prediction tools and conse rvation analysis suggest that this variant may impact the protein, though this i nformation is not predictive enough to determine pathogenicity. In summary, the clinical significance of the p.Ala2148Thr variant is uncertain.

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