Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV001195513 | SCV001365891 | uncertain significance | not specified | 2019-08-14 | criteria provided, single submitter | clinical testing | The p.Ala567Asp variant in OTOF has not been previously reported in individuals with hearing loss but has been identified in 0.01% (5/34564) of Latino chromosomes by gnomAD (http://gnomad.broadinstitute.org). Computational prediction tools and conservation analysis suggest that this variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, the clinical significance of this variant is uncertain. ACMG/AMP Criteria applied: PM2_Supporting, PP3. |
Ambry Genetics | RCV002560203 | SCV003547987 | uncertain significance | Inborn genetic diseases | 2022-09-22 | criteria provided, single submitter | clinical testing | The c.1700C>A (p.A567D) alteration is located in exon 15 (coding exon 15) of the OTOF gene. This alteration results from a C to A substitution at nucleotide position 1700, causing the alanine (A) at amino acid position 567 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |