ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.357+5G>A

gnomAD frequency: 0.00013  dbSNP: rs778431187
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000698774 SCV000827460 uncertain significance Duchenne muscular dystrophy 2022-09-07 criteria provided, single submitter clinical testing This sequence change falls in intron 5 of the DMD gene. It does not directly change the encoded amino acid sequence of the DMD protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs778431187, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected with DMD-related conditions. ClinVar contains an entry for this variant (Variation ID: 576305). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Eurofins Ntd Llc (ga) RCV000732905 SCV000860903 uncertain significance not provided 2018-04-24 criteria provided, single submitter clinical testing
Baylor Genetics RCV001332368 SCV001524676 uncertain significance Becker muscular dystrophy 2020-06-01 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Ambry Genetics RCV002458270 SCV002616737 uncertain significance Cardiovascular phenotype 2022-08-02 criteria provided, single submitter clinical testing The c.357+5G>A intronic variant results from a G to A substitution 5 nucleotides after coding exon 5 in the DMD gene. Based on data from gnomAD, the A allele has an overall frequency of 0.0005% (1/183181) total alleles studied, with 0 hemizygote(s) observed. The highest observed frequency was 0.0076% (1/13143) of African alleles. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002477595 SCV002782593 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Dilated cardiomyopathy 3B 2022-05-11 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003330910 SCV004038118 uncertain significance not specified 2023-08-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004544948 SCV004772231 likely benign DMD-related disorder 2023-07-14 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV001830537 SCV002092911 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2018-05-21 no assertion criteria provided clinical testing

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