ClinVar Miner

Submissions for variant NM_014000.3(VCL):c.783+5G>A

gnomAD frequency: 0.00002  dbSNP: rs767694507
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000687311 SCV000814873 uncertain significance Dilated cardiomyopathy 1W 2022-09-17 criteria provided, single submitter clinical testing This sequence change falls in intron 6 of the VCL gene. It does not directly change the encoded amino acid sequence of the VCL protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs767694507, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with VCL-related conditions. ClinVar contains an entry for this variant (Variation ID: 567280). 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.
GeneDx RCV001568286 SCV001792128 likely benign not provided 2020-04-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV002406542 SCV002669646 uncertain significance Cardiovascular phenotype 2023-06-05 criteria provided, single submitter clinical testing The c.783+5G>A intronic variant results from a G to A substitution 5 nucleotides after coding exon 6 in the VCL gene. 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. The evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear.

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