ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.3982C>G (p.Gln1328Glu)

gnomAD frequency: 0.00001  dbSNP: rs745640786
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000620924 SCV000736996 uncertain significance Cardiovascular phenotype 2016-07-13 criteria provided, single submitter clinical testing There is insufficient or conflicting evidence for classification of this alteration.
Labcorp Genetics (formerly Invitae), Labcorp RCV001211852 SCV001383414 likely benign Duchenne muscular dystrophy 2024-12-17 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001375537 SCV001572397 uncertain significance not specified 2021-04-03 criteria provided, single submitter clinical testing Variant summary: DMD c.3982C>G (p.Gln1328Glu) results in a conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 2.2e-05 in 182999 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.3982C>G in individuals affected with Dystrophinopathies and no experimental evidence demonstrating its impact on protein function have been reported. Two clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.
Fulgent Genetics, Fulgent Genetics RCV002483710 SCV002782424 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Dilated cardiomyopathy 3B 2021-08-12 criteria provided, single submitter clinical testing
Natera, Inc. RCV001829741 SCV002085380 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2020-04-22 no assertion criteria provided clinical testing

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