Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Laboratory for Molecular Medicine, |
RCV000155593 | SCV000205301 | uncertain significance | not specified | 2014-09-09 | criteria provided, single submitter | clinical testing | Variant classified as Uncertain Significance - Favor Benign. The Glu1049Lys vari ant in LOXHD1 has been previously reported in 1 individual with hearing loss who was homozygous for a pathogenic variant in another gene that explained their he aring loss (LMM unpublished data). This variant was absent from large population studies. Computational prediction tools and conservation analyses do not provid e strong support for or against an impact to the protein. In summary, the clinic al significance of the Glu1049Lys variant is uncertain. |
| Labcorp Genetics |
RCV001850130 | SCV002166574 | uncertain significance | not provided | 2024-01-24 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 1049 of the LOXHD1 protein (p.Glu1049Lys). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with LOXHD1-related conditions. ClinVar contains an entry for this variant (Variation ID: 178821). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
| Natera, |
RCV001277222 | SCV001464128 | uncertain significance | Autosomal recessive nonsyndromic hearing loss 77 | 2020-09-16 | no assertion criteria provided | clinical testing |