ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.8937+5C>T

gnomAD frequency: 0.00002  dbSNP: rs752551008
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001243725 SCV001416901 uncertain significance Duchenne muscular dystrophy 2023-12-21 criteria provided, single submitter clinical testing This sequence change falls in intron 59 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 (rs752551008, gnomAD 0.007%). 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: 968562). 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.
Revvity Omics, Revvity RCV003145478 SCV003830032 uncertain significance not provided 2020-10-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV003380928 SCV004097147 uncertain significance Cardiovascular phenotype 2023-09-22 criteria provided, single submitter clinical testing The c.8937+5C>T intronic variant results from a C to T substitution 5 nucleotides after coding exon 59 in the DMD gene. Based on data from gnomAD, the T allele has an overall frequency of <0.01% (3/199024) total alleles studied, with 0 hemizygote(s) observed. The highest observed frequency was <0.01% (1/14664) of East Asian 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.
Natera, Inc. RCV001836224 SCV002080218 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2019-02-13 no assertion criteria provided clinical testing

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