Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV002619483 | SCV003497056 | uncertain significance | not provided | 2022-09-27 | criteria provided, single submitter | clinical testing | This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 2684 of the BPTF protein (p.Thr2684Met). This variant is present in population databases (rs147034943, gnomAD 0.04%), including at least one homozygous and/or hemizygous individual. This variant has not been reported in the literature in individuals affected with BPTF-related conditions. 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: "Tolerated"; 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. |
| Ambry Genetics | RCV002619482 | SCV003691546 | uncertain significance | Inborn genetic diseases | 2022-08-11 | criteria provided, single submitter | clinical testing | The c.8102C>T (p.T2701M) alteration is located in exon 24 (coding exon 24) of the BPTF gene. This alteration results from a C to T substitution at nucleotide position 8102, causing the threonine (T) at amino acid position 2701 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
| Ce |
RCV002619483 | SCV004142059 | benign | not provided | 2022-03-01 | criteria provided, single submitter | clinical testing | BPTF: BS1, BS2 |