ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.4525G>A (p.Gly1509Arg) (rs727505320)

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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 RCV000156865 SCV000206586 uncertain significance not specified 2014-11-07 criteria provided, single submitter clinical testing The p.Gly1509Arg variant in LOXHD1 has not been previously reported in individua ls with hearing loss and was absent from large population studies. Another varia nt at the same residue in LOXHD1 (p.Gly1509Glu) meets our criteria to be classif ied as likely benign, suggesting that a change at this amino acid position may b e tolerated. However, computational prediction tools and conservation analysis d o not provide strong support for or against an impact to the protein. In summary , the clinical significance of the p.Gly1509Arg variant is uncertain.

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