Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Laboratory for Molecular Medicine, |
RCV000612674 | SCV000712495 | uncertain significance | not specified | 2016-12-04 | criteria provided, single submitter | clinical testing | Variant classified as Uncertain Significance - Favor Benign. The p.Asp973Ala var iant in OTOGL has not been previously reported in individuals with hearing loss, but has been identified in 2/54860 European chromosomes by the Genome Aggregati on Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs774797627). Aspar tate (Asp) at position 973 is not conserved in mammals or evolutionarily distant species and 2 mammals (Tasmanian devil and wallaby) carry an Alanine (Ala) at t his position, raising the possibility that this change may be tolerated. Additio nal computational prediction tools suggest that the p.Asp973Ala variant may not impact the protein, though this information is not predictive enough to rule out pathogenicity. In summary, while the clinical significance of the p.Asp973Ala v ariant is uncertain, these data suggest that it is more likely to be benign. |
| Fulgent Genetics, |
RCV002491234 | SCV002780559 | uncertain significance | Autosomal recessive nonsyndromic hearing loss 84B | 2022-01-18 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV004659123 | SCV005155201 | uncertain significance | Inborn genetic diseases | 2024-03-28 | criteria provided, single submitter | clinical testing | The c.2918A>C (p.D973A) alteration is located in exon 26 (coding exon 26) of the OTOGL gene. This alteration results from a A to C substitution at nucleotide position 2918, causing the aspartic acid (D) at amino acid position 973 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |