ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.4090G>T (p.Val1364Leu) (rs144935513)

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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 RCV000150973 SCV000198650 uncertain significance not specified 2013-05-13 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Val1364Leu vari ant in LOXHD1 has not been reported in individuals with hearing loss, but has be en identified in 2/178 (1%) Japanese chromosomes by the 1000 Genomes Project (db SNP rs144935513). Although this variant has been seen in the general population, the sample size is not large enough to rule out a pathogenic role. Computationa l analyses (biochemical amino acid properties, conservation, AlignGVGD, and SIFT ) suggest that the variant may not impact the protein, though this information i s not predictive enough to rule out pathogenicity. In summary, the clinical sign ificance of this variant cannot be determined with certainty; however, based upo n its presence in the general population and the computational data, we lean tow ards a more likely benign role.

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