ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.5725G>T (p.Asp1909Tyr) (rs727504544)

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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 RCV000155701 SCV000205411 uncertain significance not specified 2013-06-11 criteria provided, single submitter clinical testing The Asp1909Tyr variant in LOXHD1 has not been reported in individuals with heari ng loss or in large population studies. Computational analyses (biochemical amin o acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong support for or against an impact to the protein. In summary, additional d ata is needed to determine the clinical significance of this variant.

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