Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Laboratory for Molecular Medicine, |
RCV000615518 | SCV000711173 | uncertain significance | not specified | 2017-05-02 | criteria provided, single submitter | clinical testing | Variant classified as Uncertain Significance - Favor Benign. The p.Glu1548Lys va riant in OTOF has not been previously reported in individuals with hearing loss, but has been identified in 0.21% (64/30778) of South Asian chromosomes by the g enome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org/; dbSNP rs1 46982209). Although this variant has been seen in the general population, its fr equency is not high enough to rule out a pathogenic role. Computational predicti on tools and conservation analysis suggest that the p.Glu1548Lys variant may imp act the protein, though this information is not predictive enough to determine p athogenicity. In summary, while the clinical significance of the p.Glu1548Lys va riant is uncertain, its frequency in the general population suggests that it is more likely to be benign. |
| Illumina Laboratory Services, |
RCV001136794 | SCV001296664 | uncertain significance | Autosomal recessive nonsyndromic hearing loss 9 | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
| Invitae | RCV002062119 | SCV002394518 | likely benign | not provided | 2024-01-29 | criteria provided, single submitter | clinical testing |