ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.2540C>T (p.Pro847Leu) (rs727504657)

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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 RCV000155921 SCV000205632 uncertain significance not specified 2013-07-25 criteria provided, single submitter clinical testing The Pro847Leu variant in DSP has been previously observed in our laboratory in o ne individual with a clinical diagnosis of ARVC. This variant has not been obser ved in large population studies. Computational analyses (biochemical amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong support for or against an impact to the normal function of the protein. In sum mary, additional information is needed to fully assess the clinical significance of the Pro847Leu variant.

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