ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.1810-6C>A (rs199804946)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668744 SCV000793394 uncertain significance Deafness, autosomal recessive 77 2017-08-15 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000155772 SCV000205483 uncertain significance not specified 2013-06-11 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The 1810-6C>A varia nt in LOXHD1 has not been reported in individuals affected with hearing loss, bu t has been identified in 0.3% (1/339) of European chromosomes by the ClinSeq Pro ject (dbSNP rs199804946). Although this variant has been seen in the general pop ulation, its frequency is not high enough to rule out a pathogenic role. This va riant is located in the 3' splice region but does not affect the invariant -1 an d -2 positions. Computational tools do not suggest an impact to splicing; howeve r, this information is not predictive enough to rule out pathogenicity. In summa ry, the clinical significance of this variant cannot be determined with certaint y; however based upon the computational data, we lean towards a more likely beni gn role.

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