ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.2850T>G (p.Ile950Met) (rs727502999)

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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 RCV000150563 SCV000197813 uncertain significance not specified 2013-09-18 criteria provided, single submitter clinical testing Ile950Met variant in DSP has not been previously reported in individuals with ca rdiomyopathy or in large population studies. Computational analyses (biochemical amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) suggest th at the Ile950Met variant may not impact the protein, though this information is not predictive enough to rule out pathogenicity. Additional information is neede d to fully assess the clinical significance of the Ile950Met variant.

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