ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.192G>A (p.Gly64=) (rs141237794)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000587151 SCV000699465 uncertain significance not provided 2017-02-13 criteria provided, single submitter clinical testing Variant summary: The c.192G>A (p.Gly64=) in JUP gene is a synonymous change that involves a non-conserved nucleotide. 4/5 programs in Alamut predict that this variant do not affect a normal splicing, however no functional studies supporting these predictions were published at the time of evaluation. The variant is present in the large control population dataset of ExAC at a frequency 1.652e-05 (2/121054 chrs tested), which indicates a low coverage quality site. The observed frequency is slightly above the estimated maximal expected allele frequency of a pathogenic variant in JUP gene (0.00001), suggesting it could be a benign polymorphism. The c.192G>A has not, to our knowledge, been reported in affected individuals via published reports or cited by reputable databases/clinical laboratories. Taken together, this variant has been classified as VUS-Possibly Benign.
Invitae RCV000645223 SCV000766965 likely benign Naxos disease; Arrhythmogenic right ventricular cardiomyopathy, type 12 2017-11-20 criteria provided, single submitter clinical testing

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