ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.1476G>T (p.Trp492Cys) (rs369682197)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669450 SCV000794203 uncertain significance Deafness, autosomal recessive 77 2017-09-19 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000669450 SCV000895160 uncertain significance Deafness, autosomal recessive 77 2018-10-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000375120 SCV000408773 uncertain significance Nonsyndromic Hearing Loss, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000150988 SCV000198675 uncertain significance not specified 2014-11-10 criteria provided, single submitter clinical testing The p.Trp492Cys variant in LOXHD1 has not been previously reported in individual s with hearing loss, but has been identified in 1/3182 of European American chro mosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/ ; dbSNP rs369682197). 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 analyses suggest that the p.Trp492Cys vari ant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, the clinical significance of the p.Trp492Cy s variant is uncertain.

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