Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001337797 | SCV001531413 | uncertain significance | Mucolipidosis type IV | 2021-08-26 | criteria provided, single submitter | clinical testing | This sequence change replaces threonine with alanine at codon 392 of the MCOLN1 protein (p.Thr392Ala). The threonine residue is highly conserved and there is a small physicochemical difference between threonine and alanine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with MCOLN1-related conditions. 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: "Probably 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. |
Natera, |
RCV001337797 | SCV002091401 | uncertain significance | Mucolipidosis type IV | 2018-09-26 | no assertion criteria provided | clinical testing |