ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.2192A>C (p.Gln731Pro) (rs202063433)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000208116 SCV000263857 uncertain significance Arrhythmogenic right ventricular cardiomyopathy 2015-11-24 criteria provided, single submitter clinical testing
Invitae RCV000467261 SCV000551006 likely benign Arrhythmogenic right ventricular cardiomyopathy, type 10 2020-11-06 criteria provided, single submitter clinical testing
GeneDx RCV000494451 SCV000581801 uncertain significance not specified 2017-05-01 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the DSG2 gene. The Q731P variant has not been previously published in association with cardiomyopathy to our knowledge. However, it has been observed in one female from a cohort of 427 ostensibly healthy individuals (Kapplinger et al., 2011). Additionally, the Q731P variant has been observed in 8/9804 (0.08%) alleles from individuals of African ancestry in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). Although Q731P is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties, this substitution occurs at a position that is not conserved across species. Furthermore, proline (P) is the wild-type residue at this position in at least one non-mammalian species and in silico analysis predicts this variant likely does not alter the protein structure/function. Finally, Q731P is also classified as a variant of uncertain significance in ClinVar by two other clinical laboratories (ClinVar SCV000263857.1, SCV000551006.1; Landrum et al., 2016).
Color Health, Inc RCV001188678 SCV001355804 uncertain significance Cardiomyopathy 2019-04-08 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001507400 SCV001712938 uncertain significance not provided 2019-07-28 criteria provided, single submitter clinical testing

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