ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.4957G>A (p.Gly1653Arg) (rs374897301)

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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 RCV000156131 SCV000205845 uncertain significance not specified 2016-01-12 criteria provided, single submitter clinical testing The p.Gly1653Arg variant in LOXHD1 has been previously identified by our laborat ory in 1 Caucasian individual with hearing loss. It has not been reported in lar ge population studies. Computational prediction tools suggest that it may create a cryptic splice site, though this information is not predictive enough to dete rmine pathogenicity. In summary, the clinical significance of the p.Gly1653Arg v ariant is uncertain.

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