ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.706A>G (p.Thr236Ala)

gnomAD frequency: 0.00003  dbSNP: rs727502985
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000150535 SCV000197749 likely benign not specified 2022-02-16 criteria provided, single submitter clinical testing The p.Thr236Ala variant in DSG2 is classified as likely benign because it has been identified in 0.1% (26/19526) of East Asian chromosomes by gnomAD (http://gnomad.broadinstitute.org). In addition, computational prediction tools and conservation analyses predict that this variant does not impact the protein. ACMG/AMP Criteria applied: BS1, BP4.
Illumina Laboratory Services, Illumina RCV000395445 SCV000408212 uncertain significance Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000288036 SCV000408213 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
CSER _CC_NCGL, University of Washington RCV000395445 SCV000700117 uncertain significance Arrhythmogenic right ventricular cardiomyopathy 2016-10-01 criteria provided, single submitter research Found in patient having exome sequencing for an unrelated indication. No known history of arrhythmogenic right ventricular dysplasia. This interpretation considers GERP score and allele frequency data, in addition to published reports of the variant in the literature, available at the time of review.
Labcorp Genetics (formerly Invitae), Labcorp RCV000642343 SCV000764012 likely benign Arrhythmogenic right ventricular dysplasia 10 2024-01-04 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000777711 SCV000913654 likely benign Cardiomyopathy 2020-02-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002362786 SCV002663013 likely benign Cardiovascular phenotype 2021-06-14 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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