ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.197C>G (p.Thr66Arg) (rs199536893)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725897 SCV000340323 uncertain significance not provided 2016-03-21 criteria provided, single submitter clinical testing
GeneDx RCV000725897 SCV000573609 uncertain significance not provided 2017-03-10 criteria provided, single submitter clinical testing The T66R variant in the LOXHD1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The T66R variant is observed in 1/2176 (0.05%) alleles from individuals of African background, in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The T66R variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position where amino acids with similar properties to Threonine are tolerated across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret T66R as a variant of uncertain significance.
Illumina Clinical Services Laboratory,Illumina RCV000376131 SCV000408793 uncertain significance Nonsyndromic Hearing Loss, Recessive 2016-06-14 criteria provided, single submitter clinical testing

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