ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.5506C>G (p.Gln1836Glu)

gnomAD frequency: 0.00001  dbSNP: rs770845480
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000757162 SCV000885292 uncertain significance not provided 2017-05-14 criteria provided, single submitter clinical testing The p.Gln1836Glu variant (rs770845480) has not been reported in the medical literature, gene specific variation databases, nor has it been previously identified by our laboratory. This variant is listed in the Exome Aggregation Consortium Browser with an overall population frequency of 0.001 percent (identified on 1 out of 85,550 chromosomes). The glutamine at position 1836 is moderately conserved (considering 7 species, Alamut v.2.9.0) and computational analyses of the effects of the p.Gln1836Glu variant on protein structure and function provide conflicting results (SIFT: tolerated, PolyPhen-2: benign). Altogether, there is not enough evidence to classify the p.Gln1836Glu variant with certainty.
Fulgent Genetics, Fulgent Genetics RCV002507329 SCV002816905 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Dilated cardiomyopathy 3B 2021-07-26 criteria provided, single submitter clinical testing
Natera, Inc. RCV001825497 SCV002093495 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2018-08-21 no assertion criteria provided clinical testing

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