ClinVar Miner

Submissions for variant NM_024422.6(DSC2):c.135C>T (p.Ala45=) (rs749323567)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000603452 SCV000723156 likely benign not specified 2017-01-25 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Integrated Genetics/Laboratory Corporation of America RCV000586201 SCV000699493 benign not provided 2016-05-09 criteria provided, single submitter clinical testing Variant summary: The DSC2 c.135C>T (p.Ala45Ala) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. 4/5 splice prediction tools predict no significant impact on normal splicing. This variant was found in 10/121372 control chromosomes, predominantly observed in the Latino subpopulation at a frequency of 0.0003456 (4/11574). This frequency is about 35 times the estimated maximal expected allele frequency of a pathogenic DSC2 variant (0.00001), suggesting this is likely a benign polymorphism found primarily in the populations of Latino origin. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and clinical diagnostic laboratories. Taken together, this variant is classified as Benign.
Invitae RCV000462672 SCV000561698 likely benign Arrhythmogenic right ventricular cardiomyopathy, type 11 2017-07-31 criteria provided, single submitter clinical testing

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