ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.5016T>A (p.Asn1672Lys) (rs16990264)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000080638 SCV000112540 benign not specified 2016-01-25 criteria provided, single submitter clinical testing
GeneDx RCV000080638 SCV000168184 benign not specified 2014-01-27 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 RCV000080638 SCV000268962 benign not specified 2015-03-20 criteria provided, single submitter clinical testing p.Asn1672Lys in exon 35 of DMD: This variant is not expected to have clinical si gnificance because it has been identified in 7.2% (760/10546) of African chromos omes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs16990261).
PreventionGenetics,PreventionGenetics RCV000080638 SCV000309936 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000242327 SCV000318385 benign Cardiovascular phenotype 2016-03-26 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
Illumina Clinical Services Laboratory,Illumina RCV000330350 SCV000482248 likely benign Dilated cardiomyopathy 3B 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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae RCV000757159 SCV000560874 benign Duchenne muscular dystrophy 2019-12-31 criteria provided, single submitter clinical testing
SIB Swiss Institute of Bioinformatics RCV000330350 SCV000803568 likely benign Dilated cardiomyopathy 3B 2018-05-31 criteria provided, single submitter curation This variant is interpreted as a Likely Benign, for Cardiomyopathy, dilated, 3B, in X-linked Dominant manner. The following ACMG Tag(s) were applied: BS1 => Allele frequency is greater than expected for disorder. BS2-Supporting => BS2 downgraded in strength to supporting.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000080638 SCV000885288 benign not specified 2018-10-23 criteria provided, single submitter clinical testing

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