Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genomic Research Center, |
RCV000662084 | SCV000784421 | uncertain significance | Trichothiodystrophy 4, nonphotosensitive | 2018-03-05 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001855399 | SCV002247099 | uncertain significance | not provided | 2022-08-09 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with MPLKIP-related conditions. 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. ClinVar contains an entry for this variant (Variation ID: 548559). This variant is present in population databases (rs778910338, gnomAD 0.002%). This sequence change replaces serine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 165 of the MPLKIP protein (p.Ser165Ile). |