ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.5085+6G>A (rs373466081)

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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 RCV000041214 SCV000064905 uncertain significance not specified 2013-02-02 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The 5085+6G>A varia nt in LOXHD1 has not been reported in the literature nor previously identified b y our laboratory. This variant is located in the 5' splice region. Computational tools do not suggest and impact to splicing. However, this information is not p redictive enough to rule out pathogenicity. This variant has been identified in 0.03% (1/3182) of European American chromosomes in a broad population by the NHL BI Exome sequencing project (http://evs.gs.washington.edu/EVS/). Although this v ariant has been seen in the general population, its frequency is not high enough to rule out a pathogenic role. In summary, the clinical significance of this va riant cannot be determined with certainty; however, based upon the computational splicing predictions and its presence in the general population, we would lean towards a more likely benign role.

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