Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV002383475 | SCV002697559 | uncertain significance | Hereditary cancer-predisposing syndrome; Cardiovascular phenotype | 2022-01-27 | criteria provided, single submitter | clinical testing | The c.1360_1362delGAG variant (also known as p.E454del) is located in coding exon 13 of the LZTR1 gene. This variant results from an in-frame GAG deletion at nucleotide positions 1360 to 1362. This results in the in-frame deletion of a glutamic acid at codon 454. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| Invitae | RCV003095029 | SCV003489143 | uncertain significance | not provided | 2022-05-25 | 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 sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This variant has not been reported in the literature in individuals affected with LZTR1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.006%). This variant, c.1360_1362del, results in the deletion of 1 amino acid(s) of the LZTR1 protein (p.Glu454del), but otherwise preserves the integrity of the reading frame. |