Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001232045 | SCV001404589 | uncertain significance | Schimke immuno-osseous dysplasia | 2022-07-25 | criteria provided, single submitter | clinical testing | This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 781 of the SMARCAL1 protein (p.Val781Met). This variant is present in population databases (rs745349150, gnomAD 0.003%). 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: 958811). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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, |
RCV001232045 | SCV002780541 | uncertain significance | Schimke immuno-osseous dysplasia | 2022-02-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002563771 | SCV003607080 | uncertain significance | Inborn genetic diseases | 2022-03-29 | criteria provided, single submitter | clinical testing | The c.2341G>A (p.V781M) alteration is located in exon 15 (coding exon 13) of the SMARCAL1 gene. This alteration results from a G to A substitution at nucleotide position 2341, causing the valine (V) at amino acid position 781 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Natera, |
RCV001232045 | SCV002076326 | uncertain significance | Schimke immuno-osseous dysplasia | 2020-01-17 | no assertion criteria provided | clinical testing |