ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.852T>C (p.Asn284=) (rs62095193)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000037316 SCV000060973 likely benign not specified 2013-09-19 criteria provided, single submitter clinical testing Asn284Asn in exon 8 of DSG2: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue and is not located withi n the splice consensus sequence. It has been identified in 0.17% (14/8200) of Eu ropean American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs .washington.edu/EVS/; dbSNP rs62095193). Asn284Asn in exon 8 of DSG2 (dbSNP rs 62095193; allele frequency = 0.17%, 14/8200) **
GeneDx RCV000037316 SCV000233460 benign not specified 2014-09-17 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.
Invitae RCV001081082 SCV000287246 likely benign Arrhythmogenic right ventricular cardiomyopathy, type 10 2020-12-06 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001081082 SCV000408216 uncertain significance Arrhythmogenic right ventricular cardiomyopathy, type 10 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000756040 SCV000883746 likely benign not provided 2018-04-25 criteria provided, single submitter clinical testing The c.852T>C; p.Asn284Asn variant (rs62095193, ClinVar variant ID 44328) does not alter the amino acid sequence of the DSG2 protein and computational splice site prediction algorithms do not predict a change in the nearest splice site or creation of a cryptic splice site. This variant has not been reported in association with cardiomyopathy in medical literature or in gene specific variation databases. This variant is listed in the genome Aggregation Database (gnomAD) with a non-Finnish European population frequency of 0.09% (identified on 118 out of 126,470 chromosomes). Based on the available information, the c.852T>C variant is likely to be benign.
Color Health, Inc RCV000777795 SCV000913782 likely benign Cardiomyopathy 2018-09-28 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000756040 SCV001151511 likely benign not provided 2018-08-01 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000756040 SCV001742181 likely benign not provided no assertion criteria provided clinical testing

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