Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ARUP Laboratories, |
RCV001001121 | SCV001158261 | uncertain significance | not specified | 2019-03-18 | criteria provided, single submitter | clinical testing | The OTOF c.2771A>G; p.Glu924Gly variant (rs1471175454), to our knowledge, has not been reported in the medical literature or gene specific databases. This variant is found in the general population with an overall allele frequency of 0.001% (3/276,888 alleles) in the Genome Aggregation Database. The glutamic acid at codon 924 is weakly conserved (Alamut v.2.11) and computational analyses (SIFT, PolyPhen-2) predict that this variant is tolerated. However, based on the available information, the clinical significance of this variant is uncertain. |