ClinVar Miner

Submissions for variant NM_014000.3(VCL):c.670dup (p.Glu224fs) (rs876657674)

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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 RCV000221392 SCV000271293 likely pathogenic Primary dilated cardiomyopathy 2015-04-23 criteria provided, single submitter clinical testing The p.Glu224fs variant in VCL has not been previously identified in individuals with cardiomyopathy and was absent from large population studies. This variant i s predicted to cause a frameshift, which alters the protein?s amino acid sequenc e beginning at position 224 and leads to a premature termination codon 17 amino acids downstream. This alteration is then predicted to lead to a truncated or ab sent protein. Mouse models have shown that loss of function of the VCL gene can lead to DCM (Zemljic-Harpf 2007), although the mode of inheritance associated wi th such variants in humans is not yet clear. In summary, although additional stu dies are required to fully establish its clinical significance, the p.Glu224fs v ariant is likely pathogenic.

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