ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.4256C>T (p.Thr1419Ile) (rs866017859)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670454 SCV000795308 uncertain significance Deafness, autosomal recessive 77 2017-11-07 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000213323 SCV000271946 uncertain significance not specified 2016-09-12 criteria provided, single submitter clinical testing The p.Thr1419Ile variant in LOXHD1 has been previously identified by our laborat ory in 1 individual with hearing loss and was absent from large population studi es. Computational prediction tools and conservation analyses suggest that this v ariant may not impact the protein, though this information is not predictive eno ugh to rule out pathogenicity. In summary, the clinical significance of the p.Th r1419Ile variant is uncertain.

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