ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.1154G>A (p.Gly385Asp) (rs727504748)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000156048 SCV000205761 uncertain significance not specified 2013-09-27 criteria provided, single submitter clinical testing The Gly385Asp variant in DSG2 has not been reported in individuals with cardiomy opathy or in large population studies. Computational analysis (biochemical amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) suggest that the Gly385Asp variant may impact the protein, though this information is not predic tive enough to determine pathogenicity. Additional information is needed to full y assess the clinical significance of this variant.
Color Health, Inc RCV001189968 SCV001357369 uncertain significance Cardiomyopathy 2020-01-14 criteria provided, single submitter clinical testing

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