ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.3166G>A (p.Glu1056Lys) (rs200260213)

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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 RCV000223564 SCV000271943 uncertain significance not specified 2017-12-15 criteria provided, single submitter clinical testing The p.Glu1056Lys variant in LOXHD1 has now been identified by our laboratory in 2 individuals with hearing loss, neither of whom had a second LOXHD1 variant. Th is variant has been identified in 6/73530 (0.008%) European chromosomes by the G enome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs20 0260213). Although this variant has been seen in the general population, its fre quency is not high enough to rule out a pathogenic role. Computational predictio n tools and conservation analysis suggest that the p.Glu1056Lys variant may impa ct the protein, though this information is not predictive enough to determine pa thogenicity. In summary, the clinical significance of the p.Glu1056Lys variant i s uncertain. ACMG/AMP Criteria applied: PP3.

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