Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000078811 | SCV000110671 | uncertain significance | not provided | 2013-10-18 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000078811 | SCV002277301 | uncertain significance | not provided | 2022-06-18 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 92997). 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 PAFAH1B1-related conditions. This variant is present in population databases (rs374766360, gnomAD 0.007%). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 13 of the PAFAH1B1 protein (p.Arg13Gln). |