Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000782252 | SCV002028467 | likely benign | not provided | 2021-12-22 | criteria provided, single submitter | clinical testing | Reported in two unrelated patients with vesicoureteral reflux in published literature (Hwang et al., 2014); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 24429398) |
Mendelics | RCV002249483 | SCV002519996 | benign | not specified | 2022-05-04 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002535705 | SCV003250062 | uncertain significance | Townes syndrome | 2022-07-09 | 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. 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: 633685). This missense change has been observed in individual(s) with SALL1-related conditions (PMID: 24429398). This variant is present in population databases (rs761575154, gnomAD 0.006%). This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 580 of the SALL1 protein (p.Ile580Val). |
Gharavi Laboratory, |
RCV000782252 | SCV000920743 | uncertain significance | not provided | 2018-09-16 | no assertion criteria provided | research |