ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.797T>C (p.Met266Thr) (rs370890663)

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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 RCV000155791 SCV000205502 uncertain significance not specified 2013-09-18 criteria provided, single submitter clinical testing The Met266Thr variant in DSP has not been previously reported in individuals wit h cardiomyopathy, but has been identified in 1/4406 African American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS). Compu tational analyses (biochemical amino acid properties, conservation, AlignGVGD, P olyPhen2, and SIFT) do not provide strong support for or against an impact to th e protein. Additional information is needed to fully assess the clinical signifi cance of this variant.

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