ClinVar Miner

Submissions for variant NM_014000.2(VCL):c.1544-2A>G (rs727503738)

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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 RCV000152646 SCV000201983 likely pathogenic Primary dilated cardiomyopathy 2014-04-23 criteria provided, single submitter clinical testing The 1544-2A>G variant in VCL has been identified by our laboratory in 1 individu al with DCM. It was absent from large population studies. This variant occurs i n the invariant region (+/- 1,2) of the splice consensus sequence and is predict ed to cause altered splicing leading to an abnormal or absent protein. Mouse mod els have shown that loss of function of the VCL gene can lead to DCM (Zemljic-Ha rpf 2007). In summary, although additional studies are required to fully establi sh its clinical significance, the predicted impact of the 1544-2A>G variant supp ort that it is likely pathogenic although the mode of inheritance is currently u nknown.

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