ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.3129T>G (p.Asn1043Lys) (rs727502992)

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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 RCV000150549 SCV000197778 uncertain significance not specified 2014-01-07 criteria provided, single submitter clinical testing The Asn1043Lys variant in DSG2 has not been reported in individuals with cardiom yopathy or in large population studies. Computational analyses (biochemical amin o acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) suggest that th is variant may not impact the protein, though this information is not predictive enough to rule out pathogenicity. Additional information is needed to fully ass ess the clinical significance of the Asn1043Lys variant.

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