ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.4943A>G (p.Gln1648Arg) (rs202232360)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000181260 SCV000233543 uncertain significance not provided 2018-05-30 criteria provided, single submitter clinical testing The Q1648R variant has been previously reported in four Chinese individuals with ARVC (Bao et al., 2013), and it has been observed in other individuals referred for cardiomyopathy genetic testing at GeneDx. However, the individuals at GeneDx also harbored variants in other genes, and thus far, no informative segregation data are available for the published cases or the cases observed at GeneDx. Additionally, this variant has been collectively identified in 3/1454 (0.21%) alleles from ostensibly healthy individuals (Kapplinger et al., 2011; Bao et al., 2013), and has been observed in 50/18852 (0.27%) alleles from individuals of East Asian ancestry in large population cohorts (Lek et al., 2016). Furthermore, in-silico analyses, including protein predictors and evolutionary conservation, support that this variant does not alter protein structure/function. Nevertheless, Q1648R is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties.
Color RCV000778027 SCV000914139 likely benign Cardiomyopathy 2018-10-03 criteria provided, single submitter clinical testing
Invitae RCV001087060 SCV001007731 likely benign Dilated cardiomyopathy with woolly hair and keratoderma; Arrhythmogenic right ventricular cardiomyopathy, type 8 2019-12-31 criteria provided, single submitter clinical testing

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