ClinVar Miner

Submissions for variant NM_024422.6(DSC2):c.370C>T (p.His124Tyr) (rs371443698)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000181176 SCV000233453 benign not specified 2015-05-19 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.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000181176 SCV000269039 benign not specified 2015-04-01 criteria provided, single submitter clinical testing p.His124Tyr in exon 4 of DSC2: This variant is not expected to have clinical sig nificance because it has been identified in 1.4% (236/16370) of South Asian chro mosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.or g; dbSNP rs371443698).
Invitae RCV001080415 SCV000645015 benign Arrhythmogenic right ventricular cardiomyopathy, type 11 2019-12-31 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000587969 SCV000699500 benign not provided 2017-03-27 criteria provided, single submitter clinical testing Variant summary: The DSC2 c.370C>T (p.His124Tyr) variant involves the alteration of a non-conserved nucleotide. 4/4 in silico tools predict a benign outcome for this variant (SNPs&GO not captured due to low reliability index). This variant was found in 240/119242 control chromosomes (1 homozygote), predominantly observed in the South Asian subpopulation at a frequency of 0.014417 (236/16370). This frequency is about 1442 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 South Asian origin. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as benign. Taken together, this variant is classified as benign.
Ambry Genetics RCV000617594 SCV000738262 benign Cardiovascular phenotype 2017-12-26 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Color RCV000776122 SCV000911004 benign Cardiomyopathy 2018-03-09 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001080415 SCV001282914 uncertain significance Arrhythmogenic right ventricular cardiomyopathy, type 11 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000776122 SCV001334029 benign Cardiomyopathy 2018-01-12 criteria provided, single submitter clinical testing

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