ClinVar Miner

Submissions for variant NM_014000.3(VCL):c.1543+1G>T

dbSNP: rs2549225466
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002300879 SCV002588130 uncertain significance not provided 2022-10-20 criteria provided, single submitter clinical testing Reported in a patient with DCM in the published literature (Hawley et al., 2020); Not observed at significant frequency in large population cohorts (gnomAD); Canonical splice site variant in a gene or region of a gene for which loss of function is not a well-established mechanism of disease; This variant is associated with the following publications: (PMID: 32516855)
Labcorp Genetics (formerly Invitae), Labcorp RCV003774994 SCV004680633 uncertain significance Dilated cardiomyopathy 1W 2023-12-24 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 11 of the VCL gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), however the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in VCL cause disease. This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individual(s) with dilated cardiomyopathy (PMID: 32516855). ClinVar contains an entry for this variant (Variation ID: 1712707). 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 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.

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