Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001935321 | SCV002180581 | uncertain significance | Multiple congenital anomalies-hypotonia-seizures syndrome 2 | 2022-07-19 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 1405994). 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. This variant has not been reported in the literature in individuals affected with PIGA-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.008%), including at least one homozygous and/or hemizygous individual. This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 401 of the PIGA protein (p.Val401Leu). |