Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001240892 | SCV001413873 | uncertain significance | Wiskott-Aldrich syndrome 2 | 2022-08-09 | 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 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"). ClinVar contains an entry for this variant (Variation ID: 966257). This variant has not been reported in the literature in individuals affected with WIPF1-related conditions. This variant is present in population databases (rs144275492, gnomAD 0.0009%). This sequence change replaces proline, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 144 of the WIPF1 protein (p.Pro144Ala). |
| Ambry Genetics | RCV003339555 | SCV004067220 | uncertain significance | Inborn genetic diseases | 2023-06-30 | criteria provided, single submitter | clinical testing | The c.430C>G (p.P144A) alteration is located in exon 5 (coding exon 4) of the WIPF1 gene. This alteration results from a C to G substitution at nucleotide position 430, causing the proline (P) at amino acid position 144 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |