ClinVar Miner

Submissions for variant NM_014000.2(VCL):c.163G>T (p.Val55Phe) (rs755441334)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000218318 SCV000272904 uncertain significance not specified 2015-10-01 criteria provided, single submitter clinical testing The p.Val55Phe variant in VCL has not been previously reported in individuals wi th cardiomyopathy and data from large population studies is insufficient to asse ss the frequency of this variant. Computational prediction tools and conservatio n analysis suggest that this variant may impact the protein, though this informa tion is not predictive enough to determine pathogenicity. In summary, the clinic al significance of the p.Val55Phe variant is uncertain.
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000622645 SCV000740398 uncertain significance Familial dilated cardiomyopathy 2017-05-29 criteria provided, single submitter clinical testing

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