ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.871dup (p.Thr291fs)

dbSNP: rs759944835
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000792820 SCV000932141 pathogenic Arrhythmogenic right ventricular dysplasia 10 2018-10-24 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in DSG2 are known to be pathogenic (PMID: 23381804, 23911551). This variant has not been reported in the literature in individuals with DSG2-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Thr291Asnfs*10) in the DSG2 gene. It is expected to result in an absent or disrupted protein product.
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute RCV000792820 SCV002769220 pathogenic Arrhythmogenic right ventricular dysplasia 10 2020-05-21 criteria provided, single submitter clinical testing Based on the classification scheme VCGS_Germline_v1.1.1, this variant is classified as Pathogenic. Following criteria are met: 0102 - Loss-of-function is a known mechanism of disease for this gene. (N) 0107 - This gene is known to be associated with autosomal dominant disease with reduced penetrance. Digenic inheritance has also been reported (OMIM). (N) 0112 - Variants in this gene are known to have reduced penetrance. (N) 0201 - Variant is predicted to cause nonsense-mediated decay (NMD) and loss of protein (exon 8 of 15). (P) 0251 - Variant is heterozygous. (N) 0302 - Variant is present in gnomAD <0.001 for a dominant condition. 0.0004% (1/249360) (P) 0701 - Comparable variants have very strong previous evidence for pathogenicity. Almost all frameshift / nonsense variants have been reported as pathogenic / likely pathogenic (ClinVar/DECIPHER). (P) 0803 - Low previous evidence of pathogenicity in unrelated individuals. One patient only has been previously reported (ClinVar). (P) 0905 - No segregation evidence has been identified for this variant. (N) 1007 - No published functional evidence has been identified for this variant. (N) 1208 - Inheritance information for this variant is not currently available. (N) Legend: (P) - Pathogenic, (N) - Neutral, (B) - Benign

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