ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.3175T>A (p.Ser1059Thr)

dbSNP: rs201786158
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000171905 SCV000050907 uncertain significance Arrhythmogenic right ventricular cardiomyopathy 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine,Mass General Brigham Personalized Medicine RCV000156218 SCV000205934 uncertain significance not specified 2014-08-27 criteria provided, single submitter clinical testing The Ser1059Thr variant in DSG2 has been reported in the homozygous state in 1 Pa kistani individual with ARVD/C, though family members were not available for eva luation (Sen-Chowdhry 2007). This variant has also previously been identified by our laboratory in 1 Bangladeshi individual with clinical features of DCM. It ha s also been identified in 1/1740 chromosomes by the ClinSeq project (Ng 2013, db SNP rs201786158). Computational prediction tools and conservation analysis sugge st that this variant may not impact the protein, though this information is not predictive enough to rule out pathogenicity. In summary, the clinical significan ce of the Ser1059Thr variant is uncertain.
Color Health, Inc RCV000771354 SCV000903644 likely benign Cardiomyopathy 2018-06-26 criteria provided, single submitter clinical testing
Invitae RCV000952596 SCV001099111 likely benign Arrhythmogenic right ventricular dysplasia 10 2021-09-25 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000771354 SCV001332956 benign Cardiomyopathy 2017-11-28 criteria provided, single submitter clinical testing
GeneDx RCV001541501 SCV001759508 likely benign not provided 2020-12-31 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 17372169, 23861362)

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