ClinVar Miner

Submissions for variant NM_004006.2(DMD):c.7183G>A (p.Ala2395Thr) (rs72466590)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000080750 SCV000603350 benign not specified 2017-01-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV000246044 SCV000318569 likely benign Cardiovascular phenotype 2016-08-29 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Subpopulation frequency in support of benign classification
Athena Diagnostics Inc RCV000080750 SCV000613132 benign not specified 2017-05-03 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000080750 SCV000112652 benign not specified 2014-02-26 criteria provided, single submitter clinical testing
GeneDx RCV000080750 SCV000235853 likely benign not specified 2017-08-29 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.
GenomeConnect, ClinGen RCV000509543 SCV000607053 not provided Becker muscular dystrophy; Dilated cardiomyopathy 3B no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
Invitae RCV000467914 SCV000560838 likely benign Duchenne muscular dystrophy 2018-01-05 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000080750 SCV000711681 uncertain significance not specified 2016-05-18 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Ala2395Thr va riant in DMD has been reported in 1 child with unexplained sudden death (Campuza no 2014) and 1 mother of a proband with Duchenne Muscular Dystrophy (Taylor 2007 ). It has also been identified in 0.1% (59/47984) of European chromosomes, inclu ding 22 hemizygotes, by the Exome Aggregation Consortium (ExAC, http://exac.broa dinstitute.org; dbSNP rs72466590). Computational prediction tools and conservati on analysis suggest that the p.Ala2395Thr variant may not impact the protein, th ough this information is not predictive enough to rule out pathogenicity. In sum mary, while the clinical significance of the p.Ala2395Thr variant is uncertain, these data suggest that it is more likely to be benign.

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