ClinVar Miner

Submissions for variant NM_001927.4(DES):c.897+4_897+5del (rs397516699)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000037255 SCV000060912 benign not specified 2015-03-19 criteria provided, single submitter clinical testing c.897+4_897+5delGG in intron 4 of DES: This variant is not expected to have clin ical significance because it has been identified in 1.6% (260/16508) of South As ian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinst itute.org; dbSNP rs397516699).
Illumina Clinical Services Laboratory,Illumina RCV000298076 SCV000427718 likely benign Myofibrillar Myopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000352919 SCV000427719 likely benign Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000268007 SCV000427720 likely benign Myofibrillar myopathy 1 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000304469 SCV000427721 likely benign Scapuloperoneal weakness 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000462365 SCV000562345 benign Myofibrillar myopathy 1; Muscular dystrophy, limb-girdle, type 2R 2020-12-03 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000037255 SCV000700600 likely benign not specified 2017-03-21 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770170 SCV000901597 benign Cardiomyopathy 2018-07-30 criteria provided, single submitter clinical testing
Mendelics RCV000268007 SCV001136222 benign Myofibrillar myopathy 1 2019-05-28 criteria provided, single submitter clinical testing
Broad Institute Rare Disease Group, Broad Institute RCV001258319 SCV001435287 likely benign Dilated cardiomyopathy 1I criteria provided, single submitter research The heterozygous c.897+4_897+5delGG variant in DES has been identified in an individual with dilated cardiomyopathy (PMID: 20474083), but has also been identified in >1% of South Asian chromosomes and 4 homozygotes by ExAC (http://gnomad.broadinstitute.org/). In summary, although additional studies are required to fully establish its clinical significance, this variant meets criteria to be classified as likely benign for autosomal dominant dilated cardiomyopathy.
Athena Diagnostics Inc RCV000037255 SCV001475074 benign not specified 2020-09-01 criteria provided, single submitter clinical testing
GeneDx RCV001610325 SCV001841958 benign not provided 2016-10-24 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 33250842, 27535533, 20474083)

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