Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000798852 | SCV000938488 | uncertain significance | Xanthinuria type II | 2018-11-30 | criteria provided, single submitter | clinical testing | 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with MOCOS-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces threonine with alanine at codon 93 of the MOCOS protein (p.Thr93Ala). The threonine residue is highly conserved and there is a small physicochemical difference between threonine and alanine. |
| Ambry Genetics | RCV003279075 | SCV003954893 | uncertain significance | Inborn genetic diseases | 2023-04-18 | criteria provided, single submitter | clinical testing | The c.277A>G (p.T93A) alteration is located in exon 3 (coding exon 3) of the MOCOS gene. This alteration results from a A to G substitution at nucleotide position 277, causing the threonine (T) at amino acid position 93 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |