ClinVar Miner

Submissions for variant NM_014000.2(VCL):c.2746-14C>T (rs367598954)

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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 RCV000038814 SCV000062492 uncertain significance not specified 2012-04-19 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The 2746-14C>T vari ant (VCL) has not been reported in the literature nor previously identified by o ur laboratory. This variant is located in the 3' splice region. Computational to ols do not predict altered splicing; however, this information is not predictive enough to rule out pathogenicity. In addition, this variant has been identified in 0.03% (2/7020) of European American chromosomes from a broad population by t he NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/), though th is frequency is too low to confidently rule out a disease causing role. In summa ry, although this data supports that the 2746-14C>T variant may be benign, addit ional studies are needed to fully assess its clinical significance.
GeneDx RCV000038814 SCV000526985 likely benign not specified 2016-04-19 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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