ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.210G>T (p.Glu70Asp) (rs876657859)

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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 RCV000221472 SCV000271937 uncertain significance not specified 2015-10-10 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Glu70Asp vari ant in LOXHD1 has not been previously reported in individuals with hearing loss and was absent from large population studies. The glutamic acid (Glu) at amino a cid position 70 is conserved through mammals; however, several fish species have an aspartic acid (Asp) at this position, raising the possibility that this vari ant could be tolerated. Additional computational prediction tools and conservati on analysis suggest the variant may not impact the protein, though this informat ion is not predictive enough to rule out pathogenicity. In summary, while the cl inical significance of the p.Glu70Asp variant is uncertain, the conservation dat a suggest that it is more likely to be benign.

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