ClinVar Miner

Submissions for variant NM_014000.2(VCL):c.1762C>T (p.Gln588Ter) (rs727504381)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000154540 SCV000204212 likely pathogenic Primary dilated cardiomyopathy 2010-07-01 criteria provided, single submitter clinical testing The Gln588X variant has not been reported in the literature. This variant leads to a premature stop at codon 588. This alteration is predicted to lead to a trun cated or completely absent protein (loss of function). Although the VCL gene has not yet been implicated in the etiology of LVNC and the variant spectrum is not yet well defined, our laboratory has identified loss of function variants in VC L in 4/14 probands with DCM and/or LVNC. Furthermore, mouse models have shown th at loss of function of the VCL gene can lead to DCM. In summary, the Gln588X va riant is likely to be pathogenic.

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