Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002513222 | SCV003441643 | uncertain significance | not provided | 2022-08-15 | 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. Experimental studies have shown that this missense change affects BICC1 function (PMID: 21922595). 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: 31154). This missense change has been observed in individual(s) with renal abnormalities (PMID: 21922595). This variant is present in population databases (rs387907124, gnomAD 0.003%). This sequence change replaces glutamic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 932 of the BICC1 protein (p.Glu932Gly). |
OMIM | RCV000024150 | SCV000045441 | risk factor | Renal dysplasia, cystic, susceptibility to | 2012-01-01 | no assertion criteria provided | literature only |