Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Genetic Services Laboratory, |
RCV001822730 | SCV002071971 | uncertain significance | not specified | 2021-11-19 | criteria provided, single submitter | clinical testing | DNA sequence analysis of the LYZ gene demonstrated a sequence change, c.175C>T, which results in the creation of a premature stop codon at amino acid position 59, .p.Arg59*. This sequence change is predicted to result in an abnormal transcript, which may be degraded, or may lead to the production of a truncated LYZ protein with potentially abnormal function. This sequence change has been described in the gnomAD database with a frequency of 0.0068% (dbSNP rs374990260). This sequence change has previously not been described in individuals with LYZ-related disorders and till date only missense changes have been reported in this gene in association with the related conditions. Due to lack of functional studies and information regarding effect of truncating variants in this gene, the clinical significance of this variant remains unknown at this time. |
| Fulgent Genetics, |
RCV002482370 | SCV002776971 | uncertain significance | Familial visceral amyloidosis, Ostertag type | 2022-01-13 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV002542685 | SCV003269860 | uncertain significance | not provided | 2022-10-12 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg59*) in the LYZ gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in LYZ cause disease. This variant is present in population databases (rs374990260, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with LYZ-related conditions. ClinVar contains an entry for this variant (Variation ID: 1338132). 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. |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV001822730 | SCV004803489 | uncertain significance | not specified | 2024-01-17 | criteria provided, single submitter | clinical testing | Variant summary: LYZ c.175C>T (p.Arg59X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, however the molecular mechanism of disease attributed to LYZ is currently unknown. The variant allele was found at a frequency of 6.8e-05 in 251446 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.175C>T in individuals affected with Familial Visceral Amyloidosis, Ostertag Type and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 1338132). Based on the evidence outlined above, the variant was classified as uncertain significance. |
| Breakthrough Genomics, |
RCV002542685 | SCV005191907 | uncertain significance | not provided | criteria provided, single submitter | not provided |