Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002380297 | SCV002674989 | pathogenic | Hereditary cancer-predisposing syndrome; Cardiovascular phenotype | 2021-05-07 | criteria provided, single submitter | clinical testing | The c.735dupG pathogenic mutation, located in coding exon 8 of the LZTR1 gene, results from a duplication of G at nucleotide position 735, causing a translational frameshift with a predicted alternate stop codon (p.Q246Afs*14). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. Based on the supporting evidence, this variant is pathogenic for an increased risk of nerve sheath tumors and would be expected to cause autosomal recessive Noonan syndrome when present along with a second pathogenic or likely pathogenic variant on the other allele. |
3billion | RCV005254075 | SCV005905289 | pathogenic | LZTR1-related schwannomatosis | 2024-02-07 | criteria provided, single submitter | clinical testing | The variant is not observed in the gnomAD v2.1.1 dataset. Predicted Consequence/Location: Frameshift: predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant. The variant has been reported to be associated with LZTR1 related disorder (ClinVar ID: VCV001758501). Therefore, this variant is classified as Likely Pathogenic according to the recommendation of ACMG/AMP guideline. |