ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.6275C>T (p.Ala2092Val) (rs876657796)

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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 RCV000220729 SCV000271737 uncertain significance not specified 2015-06-11 criteria provided, single submitter clinical testing The p.Ala2092Val variant in DSP has not been previously reported in individuals with cardiomyopathy or in large population studies. Computational prediction too ls and conservation analysis suggest that this variant may impact the protein, t hough this information is not predictive enough to determine pathogenicity. In s ummary, the clinical significance of the p.Ala2092Val variant is uncertain.

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