ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.5204A>G (p.Lys1735Arg) (rs368286192)

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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 RCV000404500 SCV000408713 uncertain significance Nonsyndromic Hearing Loss, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000612147 SCV000711092 uncertain significance not specified 2019-02-12 criteria provided, single submitter clinical testing The p.Lys1735Arg variant in LOXHD1 has been previously reported by our laborator y in 1 individual with hearing loss, but has also been identified in 0.02% (16/7 6228) of European chromosomes by gnomAD ( It h as also been reported in ClinVar (Variation ID 326835). Computational prediction tools and conservation analyses suggest that this variant may not impact the pr otein, though this information is not predictive enough to rule out pathogenicit y. In summary, the clinical significance of the p.Lys1735Arg is uncertain. ACMG/ AMP criteria applied: BP4, PM2_Supporting.

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