ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.5201A>G (p.Lys1734Arg) (rs370816148)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674752 SCV000800143 uncertain significance Deafness, autosomal recessive 77 2018-05-23 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000306110 SCV000408714 uncertain significance Nonsyndromic Hearing Loss, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000221758 SCV000271951 uncertain significance not specified 2015-02-26 criteria provided, single submitter clinical testing The p.Lys1734Arg variant in LOXHD1 has not been previously reported in individua ls with hearing loss, but has been identified in 0.1% (2/2758) of African chromo somes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs370816148). Although this variant has been seen in the general populati on, its frequency is not high enough to rule out a pathogenic role. Computationa l prediction tools and conservation analysis do not provide strong support for o r against an impact to the protein. In summary, the clinical significance of the p.Lys1734Arg variant is uncertain.

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