ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.6154G>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000825367 SCV000966662 uncertain significance not specified 2019-02-28 criteria provided, single submitter clinical testing The p.Val2052Met variant in LOXHD1 has not been previously reported in individua ls with hearing loss but has been identified in 0.0006% (1/156296) of the total chromosomes by gnomAD (http://gnomad.broadinstitute.org). Computational predicti on tools and conservation analysis do not provide strong support for or against an impact of the missense variant to the protein. This variant is located in the last three bases of the exon, which is part of the 5? splice region. Computatio nal tools suggest a splicing impact, though this information is not predictive e nough to determine pathogenicity. In summary, the clinical significance of this variant is uncertain. ACMG/AMP Criteria applied: PM2, PP3.

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