Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000793305 | SCV000932653 | uncertain significance | SRD5A3-congenital disorder of glycosylation | 2018-09-27 | criteria provided, single submitter | clinical testing | This sequence change replaces leucine with phenylalanine at codon 112 of the SRD5A3 protein (p.Leu112Phe). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and phenylalanine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SRD5A3-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
| Ambry Genetics | RCV002536958 | SCV003759204 | uncertain significance | Inborn genetic diseases | 2021-01-27 | criteria provided, single submitter | clinical testing | The c.334C>T (p.L112F) alteration is located in exon 2 (coding exon 2) of the SRD5A3 gene. This alteration results from a C to T substitution at nucleotide position 334, causing the leucine (L) at amino acid position 112 to be replaced by a phenylalanine (F). The p.L112F alteration is predicted to be tolerated by in silico analysis. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |