Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001313412 | SCV001503908 | uncertain significance | Schimke immuno-osseous dysplasia | 2022-03-14 | criteria provided, single submitter | clinical testing | This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 584 of the SMARCAL1 protein (p.Met584Val). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SMARCAL1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1014651). 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. 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. |
Fulgent Genetics, |
RCV001313412 | SCV002788184 | uncertain significance | Schimke immuno-osseous dysplasia | 2022-04-13 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002543627 | SCV003595687 | uncertain significance | Inborn genetic diseases | 2021-12-07 | criteria provided, single submitter | clinical testing | The c.1750A>G (p.M584V) alteration is located in exon 11 (coding exon 9) of the SMARCAL1 gene. This alteration results from a A to G substitution at nucleotide position 1750, causing the methionine (M) at amino acid position 584 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |