ClinVar Miner

Submissions for variant NM_014000.2(VCL):c.2435-1G>A (rs794729188)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000183980 SCV000236474 uncertain significance not provided 2013-06-18 criteria provided, single submitter clinical testing The c.2435-1 G>A variant has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge, this variant destroys the canonical splice acceptor site in intron 16 and is predicted to cause abnormal gene splicing. The variant is predicted to lead to either an abnormal message that is subject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used for protein translation. Nevertheless, no splice site or frameshift disease-causing mutations in the VCL gene have been reported in association with cardiomyopathy. With the clinical and molecular information available at this time, we cannot definitively determine if c.2435-1 G>A is a disease-causing mutation or a rare benign variant. The variant is found in VCL panel(s).

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