ClinVar Miner

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

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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 RCV000041193 SCV000064884 uncertain significance not specified 2013-03-09 criteria provided, single submitter clinical testing The 1810-6C>G variant in LOXHD1 has not been reported in individuals affected wi th hearing loss, but has been identified in 0.3% (1/339) of chromosomes by the C linSeq Project (dbSNP rs199804946), though this frequency is not high enough to rule out a pathogenic role. This variant is located in the 3' splice region but does not affect the invariant -1 and -2 positions. Computational tools do not su ggest an impact to splicing; however, this information is not predictive enough to rule out pathogenicity. In summary, additional information is needed to fully assess the clinical significance of this variant.

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