ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.4031G>T (p.Cys1344Phe) (rs368870055)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000155146 SCV000204832 uncertain significance not specified 2014-01-02 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Cys1344Phe vari ant in LOXHD1 has now been identified by our laboratory in three individuals wit h hearing loss, all with alternate explanations for their hearing loss. This var iant has also been identified in 0.09% (3/3182) of the European American populat ion by the NHLBI Exome Sequencing Project; however, this frequency is not high e nough to rule out a pathogenic role, particularly for a recessive disorder. Comp utational analyses (biochemical amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong support for or against an impact to t he protein. In summary, the clinical significance of this variant cannot be dete rmined with certainty at this time. However, based on only being identified in a ffected individuals with an alternative explanation of their hearing loss and id entification in the general population, we would lean towards a more likely beni gn role.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000155146 SCV000707020 benign not specified 2017-03-30 criteria provided, single submitter clinical testing

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