ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.4523G>A (p.Arg1508Lys) (rs199518750)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000370435 SCV000408721 uncertain significance Nonsyndromic Hearing Loss, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000599692 SCV000711093 likely benign not specified 2016-10-13 criteria provided, single submitter clinical testing p.Arg1508Lys in exon 29 of LOXHD1: This variant is not expected to have clinical significance due to a lack of conservation across species, including mammals. O f note, >10 mammals have a lysine (Lys) at this position despite high nearby ami no acid conservation. In addition, computational prediction tools do not suggest a high likelihood of impact to the protein. This variant has also been identifi ed in 5/8736 European chromosomes by the Exome Aggregation Consortium (ExAC, htt p://exac.broadinstitute.org; dbSNP rs199518750).

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