ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.3603G>A (p.Lys1201=)

dbSNP: rs1265370991
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000990684 SCV001141707 likely benign Duchenne muscular dystrophy 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000990684 SCV004450171 likely pathogenic Duchenne muscular dystrophy 2024-08-23 criteria provided, single submitter clinical testing This sequence change affects codon 1201 of the DMD mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the DMD protein. This variant also falls at the last nucleotide of exon 26, which is part of the consensus splice site for this exon. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has been observed in individuals with Becker/Duchenne muscular dystrophy (PMID: 16770791, 19959795; internal data). ClinVar contains an entry for this variant (Variation ID: 803891). 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 may disrupt the consensus splice site. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Institute of Human Genetics, University of Wuerzburg RCV001788389 SCV002031212 uncertain significance Elevated circulating creatine kinase concentration no assertion criteria provided clinical testing

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