ClinVar Miner

Submissions for variant NM_001927.4(DES):c.1024-3C>A

dbSNP: rs1553603530
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000605073 SCV000723766 likely benign not specified 2017-10-18 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000819113 SCV000959756 uncertain significance Desmin-related myofibrillar myopathy 2018-12-06 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with DES-related conditions. ClinVar contains an entry for this variant (Variation ID: 512722). This variant is not present in population databases (ExAC no frequency). This sequence change falls in intron 5 of the DES gene. It does not directly change the encoded amino acid sequence of the DES protein, but it affects a nucleotide within the consensus splice site of the intron. 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.
Ambry Genetics RCV003338687 SCV004058500 uncertain significance Cardiovascular phenotype 2023-09-07 criteria provided, single submitter clinical testing The c.1024-3C>A intronic variant results from a C to A substitution 3 nucleotides before coding exon 6 in the DES gene. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration may result in the creation or strengthening of a novel splice acceptor site. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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