Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Laboratory for Molecular Medicine, |
RCV000825359 | SCV000966654 | uncertain significance | not specified | 2018-06-05 | criteria provided, single submitter | clinical testing | The p.Gly1653Arg variant in LOXHD1 has not been previously reported in individua ls with hearing loss but, has been identified in 16/73382 European chromosomes b y the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbS NP rs374897301). Although this variant has been seen in the general population, its frequency is not high enough to rule out a pathogenic role. Computational p rediction tools and conservation analysis suggest that the p.Gly1653Arg variant may impact the protein, though this information is not predictive enough to dete rmine pathogenicity. In summary, the clinical significance of the p.Gly1653Arg v ariant is uncertain. ACMG/AMP Criteria applied: PM2_Supporting, PP3. |
| Illumina Laboratory Services, |
RCV001124017 | SCV001282921 | uncertain significance | Autosomal recessive nonsyndromic hearing loss 77 | 2018-01-13 | criteria provided, single submitter | clinical testing | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease. |
| Daryl Scott Lab, |
RCV001124017 | SCV005871348 | uncertain significance | Autosomal recessive nonsyndromic hearing loss 77 | 2024-01-01 | criteria provided, single submitter | clinical testing | PP3 |
| Natera, |
RCV001124017 | SCV001460010 | uncertain significance | Autosomal recessive nonsyndromic hearing loss 77 | 2020-09-16 | no assertion criteria provided | clinical testing |