ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.1109dup (p.Thr371fs) (rs1555627118)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000603286 SCV000711722 uncertain significance not specified 2017-12-07 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Pathogenic. The p.Thr371fs variant in DSG2 has not been previously reported in individuals with cardiomyopa thy and was absent from large population studies. This variant is predicted to c ause a frameshift, which alters the protein?s amino acid sequence beginning at p osition 371 and leads to a premature termination codon 19 amino acids downstream . This alteration is then predicted to lead to a truncated or absent protein. Fr ameshift and other loss of function variants in DSG2 gene have been reported in individuals with ARVC. In summary, while there is some suspicion for a pathogeni c role, the clinical significance of the p.Thr371fs variant is uncertain.
GeneDx RCV001561033 SCV001783553 likely pathogenic not provided 2021-05-13 criteria provided, single submitter clinical testing Reported in an individual undergoing whole exome sequencing in published literature (Sapp et al., 2018); although the indications for testing and follow-up cardiac evaluations were not described Not observed in large population cohorts (Lek et al., 2016) Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease This variant is associated with the following publications: (PMID: 30122538)

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