ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.4877-3C>A (rs876657861)

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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 RCV000218131 SCV000271950 uncertain significance not specified 2015-02-16 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Pathogenic. The c.4877-3C>A variant in LOXHD1 has not been previously reported in individuals with hearing loss and was absent from large population studies. This variant is located in th e 3' splice region. An adenine nucleotide (A) at the -3 position of the 3' splic e site diverges from the consensus sequence at that position, and computational tools suggest a possible impact to splicing. However, this information is not pr edictive enough to determine pathogenicity. In summary, while there is some susp icion for a pathogenic role, the clinical significance of this variant is uncert ain.

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