ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.3218C>G (p.Thr1073Arg) (rs1353205519)

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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 RCV000616865 SCV000731520 uncertain significance not specified 2017-03-31 criteria provided, single submitter clinical testing The p.Thr1073Arg variant in LOXHD1 has not been previously reported in individua ls with hearing loss, but it has been identified in 1/14994 European chromosomes by the Genome Aggregation Database gnomAD, http://gnomad.broadinstitute.org). A lthough this variant has been seen in the general population, its frequency is n ot high enough to rule out a pathogenic role. Computational prediction tools and conservation analyses do not provide strong support for or against an impact to the protein. In summary, the clinical significance of the p.Thr1073Arg variant is uncertain.

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