ClinVar Miner

Submissions for variant NM_001173129.1(LOXHD1):c.*18G>T (rs727504587)

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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 RCV000155760 SCV000205471 uncertain significance not specified 2013-06-11 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Ala1110Ser vari ant in LOXHD1 has not been reported in individuals with hearing loss or in large population studies. Computational analyses (biochemical amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) suggest that the Ala1110Ser varia nt may not impact the protein, though this information is not predictive enough to rule out pathogenicity. In summary, the clinical significance of this variant cannot be determined with certainty; however, based upon computational and cons ervation data, we lean towards a more likely benign role.

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