ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.2575C>T (p.Arg859Trp) (rs372546084)

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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 RCV000384291 SCV000408750 uncertain significance Nonsyndromic Hearing Loss, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000616543 SCV000712453 uncertain significance not specified 2018-09-06 criteria provided, single submitter clinical testing The p.Arg859Trp variant in LOXHD1 has been reported in 2 individuals with hearin g loss, one of whom had an additional variant in the PTPRQ gene that segregated with hearing loss in other affected family members (LMM data, Eisenberger 2018). The p.Arg859Trp variant has also been identified in 0.056% (14/24786) of Latino chromosomes by gnomAD (http://gnomad.broadinstitute.org), and has been reported in ClinVar (Variation ID 326858). Computational prediction tools and conservati on analysis suggest that the p.Arg859Trp variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summar y, the clinical significance of the p.Arg859Trp variant is uncertain. ACMG/AMP C riteria applied: PM2_Supporting, PP3.

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