ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.3626C>T (p.Thr1209Ile) (rs727504804)

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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 RCV000156130 SCV000205844 uncertain significance not specified 2013-10-18 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Thr1209Ile vari ant in LOXHD1 has not been reported in individuals with hearing loss or in large population studies. The threonine (Thr) at position 1209 is not fully conserved across species with several species including mammals (opossum and wallaby) hav ing an isoleucine (Ile) at this position. In addition, computational analyses (b iochemical amino acid properties, AlignGVGD, PolyPhen2, and SIFT) suggest that t he Thr1209Ile variant may not impact the protein, though this information is not predictive enough to rule out pathogenicity. In summary, the clinical significa nce of this variant cannot be determined with certainty; however based upon the conservation and computational data, we would lean towards a more likely benign role.

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