ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.6409G>A (p.Glu2137Lys) (rs376559755)

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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 RCV000612086 SCV000713733 uncertain significance not specified 2017-11-20 criteria provided, single submitter clinical testing The p.Glu2137Lys variant in LOXHD1 has not been previously reported in individua ls with hearing loss. This variant has been identified in 5/24794 Latino chromos omes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.or g; dbSNP rs376559755). Although this variant has been seen in the general popula tion, its frequency is not high enough to rule out a pathogenic role. Computatio nal prediction tools and conservation analysis suggest that the p.Glu2137Lys var iant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, the clinical significance of the p.Glu2137 Lys variant is uncertain. ACMG/AMP Criteria applied: PP3.

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