ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.9362-3C>T

dbSNP: rs752816247
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000216888 SCV000271673 uncertain significance not specified 2015-09-09 criteria provided, single submitter clinical testing The c.9362-3C>T variant in DMD has not been previously reported in individuals w ith cardiomyopathy and data from large population studies is insufficient to ass ess the frequency of this variant. This variant is located in the 3' splice regi on. Computational tools do not suggest an impact to splicing and a C>T change at this position does not diverge from the splice consensus sequence and is theref ore unlikely to impact splicing. However, this information is not predictive eno ugh to rule out pathogenicity. In summary, the clinical significance of the c.93 62-3C>T variant is uncertain.
Ambry Genetics RCV002372227 SCV002686355 uncertain significance Cardiovascular phenotype 2022-03-08 criteria provided, single submitter clinical testing The c.9362-3C>T intronic variant results from a C to T substitution 3 nucleotides upstream from coding exon 65 in the DMD gene. This nucleotide position is 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002519630 SCV003461335 uncertain significance Duchenne muscular dystrophy 2021-03-22 criteria provided, single submitter clinical testing This sequence change falls in intron 64 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 of the intron. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with DMD-related conditions. ClinVar contains an entry for this variant (Variation ID: 228596). Nucleotide substitutions within 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 may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. 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.
Mayo Clinic Laboratories, Mayo Clinic RCV004791332 SCV005411420 uncertain significance not provided 2024-09-18 criteria provided, single submitter clinical testing BP4, PM2
Natera, Inc. RCV001833201 SCV002080165 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2021-01-28 no assertion criteria provided clinical testing

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