ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.4281T>G (p.Ile1427Met) (rs727503140)

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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 RCV000150970 SCV000198646 uncertain significance not specified 2014-05-20 criteria provided, single submitter clinical testing The Ile1427Met variant in LOXHD1 has not been reported in individuals with heari ng loss and was absent from large population studies. The isoleucine (Ile) at po sition 1427 is conserved in mammals, but not in birds or evolutionarily distant species, with lizard having methionine (Met). This raises the possibility that a change at this position may be tolerated. Other computational prediction tools do not provide strong support for or against an impact to the protein. In summar y, the clinical significance of the Ile1427Met variant is uncertain.

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