ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.706A>G (p.Thr236Ala) (rs727502985)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000150535 SCV000197749 uncertain significance not specified 2014-08-22 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Thr236Ala varia nt in DSG2 has not been previously reported in individuals with cardiomyopathy o r in large population studies. Threonine (Thr) at position 236 is not conserved in mammals or evolutionarily distant species and 2 mammals (black flying fox and megabat) carry an alanine (Ala) at this position, raising the possibility that this change may be tolerated. Computational prediction tools do not provide stro ng support for or against and impact to the protein. In summary, while the clini cal significance of the Thr236Ala variant is uncertain, the presence of the vari ant amino acid in other mammals suggests that it is more likely to be benign.
Illumina Clinical Services Laboratory,Illumina RCV000395445 SCV000408212 uncertain significance Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,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.
Invitae RCV000642343 SCV000764012 likely benign Arrhythmogenic right ventricular cardiomyopathy, type 10 2020-01-18 criteria provided, single submitter clinical testing
Color Health, Inc RCV000777711 SCV000913654 likely benign Cardiomyopathy 2020-02-05 criteria provided, single submitter clinical testing

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