Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001241950 | SCV001415006 | uncertain significance | Wiskott-Aldrich syndrome 2 | 2022-09-25 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 281 of the WIPF1 protein (p.Ala281Pro). This variant is present in population databases (rs201094141, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with WIPF1-related conditions. ClinVar contains an entry for this variant (Variation ID: 967121). 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: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available"). 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. |
Ambry Genetics | RCV002564013 | SCV003711888 | uncertain significance | Inborn genetic diseases | 2022-12-28 | criteria provided, single submitter | clinical testing | The c.841G>C (p.A281P) alteration is located in exon 5 (coding exon 4) of the WIPF1 gene. This alteration results from a G to C substitution at nucleotide position 841, causing the alanine (A) at amino acid position 281 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
New York Genome Center | RCV001241950 | SCV004046549 | uncertain significance | Wiskott-Aldrich syndrome 2 | 2023-03-22 | criteria provided, single submitter | clinical testing |