Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV002638358 | SCV003522146 | uncertain significance | not provided | 2022-07-26 | 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: "Deleterious"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C15"). This variant has not been reported in the literature in individuals affected with ABCA2-related conditions. This variant is present in population databases (rs376153765, gnomAD 0.06%). This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 1088 of the ABCA2 protein (p.Thr1088Met). |
| Ambry Genetics | RCV004072053 | SCV004870467 | uncertain significance | not specified | 2023-12-08 | criteria provided, single submitter | clinical testing | The c.3263C>T (p.T1088M) alteration is located in exon 22 (coding exon 22) of the ABCA2 gene. This alteration results from a C to T substitution at nucleotide position 3263, causing the threonine (T) at amino acid position 1088 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
| Gene |
RCV002638358 | SCV005372371 | uncertain significance | not provided | 2023-12-08 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |