Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000151593 | SCV000199753 | uncertain significance | not specified | 2013-11-13 | criteria provided, single submitter | clinical testing | The Asp1651Asn variant in OTOF has not been previously reported in individuals w ith hearing loss but was detected in 0.02% (1/4406) of African American chromoso mes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu; dbSNP r s139201321). Computational tools (amino acid biochemical properties, conservati on, AlignGVGD, SIFT, PolyPhen-2) do not provide strong evidence for or against a n impact to the protein. Additional information is required to establish the cl inical significance of this variant. |
Invitae | RCV001850068 | SCV002151474 | likely benign | not provided | 2023-12-05 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003242992 | SCV003939380 | uncertain significance | Inborn genetic diseases | 2023-06-06 | criteria provided, single submitter | clinical testing | The c.4951G>A (p.D1651N) alteration is located in exon 39 (coding exon 39) of the OTOF gene. This alteration results from a G to A substitution at nucleotide position 4951, causing the aspartic acid (D) at amino acid position 1651 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |