ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.5554C>T (p.Arg1852Cys) (rs550818559)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000621108 SCV000738190 uncertain significance Cardiovascular phenotype 2017-09-30 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Color RCV000777829 SCV000913827 likely benign Cardiomyopathy 2018-06-18 criteria provided, single submitter clinical testing
Invitae RCV000528868 SCV000641322 likely benign Dilated cardiomyopathy with woolly hair and keratoderma; Arrhythmogenic right ventricular cardiomyopathy, type 8 2017-04-06 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000150576 SCV000197834 uncertain significance not specified 2014-01-22 criteria provided, single submitter clinical testing The Arg1852Cys variant in DSP has not been reported in individuals with cardiomy opathy or in large population studies. Computational analyses (biochemical amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) suggest that the Arg1852Cys variant may impact the protein, though this information is not predi ctive enough to determine pathogenicity. Additional information is needed to ful ly assess the clinical significance of the Arg1852Cys variant.

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