ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.166G>A (p.Gly56Ser) (rs200763838)

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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 RCV000613518 SCV000711098 uncertain significance not specified 2016-06-28 criteria provided, single submitter clinical testing The p.Gly56Ser variant in LOXHD1 has not been previously reported in individuals with hearing loss, but has been identified in 4/8970 European chromosomes and 2 /2216 African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac .broadinstitute.org; dbSNP rs200763838). Although this variant has been seen in the general population, its frequency is not high enough to rule out a pathogeni c role. Computational prediction tools and conservation analyses suggest that th is variant may impact the protein, though this information is not predictive eno ugh to determine pathogenicity. In summary, the clinical significance of the p.G ly56Ser variant is uncertain.

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