ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.3210G>A (p.Thr1070=) (rs771104963)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000536789 SCV000641981 uncertain significance Arrhythmogenic right ventricular cardiomyopathy, type 10 2018-09-17 criteria provided, single submitter clinical testing This sequence change affects codon 1070 of the DSG2 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the DSG2 protein. This variant is present in population databases (rs771104963, ExAC 0.02%) but has not been reported in the literature in individuals with a DSG2-related disease. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may alter RNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this is a rare silent change with uncertain impact on splicing. It has been classified as a Variant of Uncertain Significance.
Color Health, Inc RCV000772098 SCV000905133 uncertain significance Cardiomyopathy 2019-10-09 criteria provided, single submitter clinical testing

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