Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000532275 | SCV000649239 | uncertain significance | Oligosynaptic infertility; 46,XY sex reversal 3 | 2017-03-30 | criteria provided, single submitter | clinical testing | This sequence change deletes 3 nucleotides from exon 3 of the NR5A1 mRNA (c.236_238delGCC). This leads to the deletion of 1 amino acid residue in the NR5A1 protein (p.Arg79del) but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with an NR5A1-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acid is currently unknown. In summary, this is a novel in-frame deletion with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. |