ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.860A>G (p.Asn287Ser) (rs138872423)

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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 RCV000038114 SCV000061780 uncertain significance not specified 2013-10-15 criteria provided, single submitter clinical testing The Asn287Ser variant in DSP has now been identified by our laboratory in 1 Cauc asian individual with ARVC and segregated with disease in 1 affected relative. T his variant has been identified in 1/176 of Yoruba chromosomes by the 1000 Genom es Project (dbSNP rs138872423). Computational analyses (biochemical amino acid p roperties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong s upport for or against an impact to the protein. Additional information is needed to fully assess the clinical significance of the Asn287Ser variant.

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