Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001326663 | SCV001517705 | uncertain significance | not provided | 2022-03-24 | 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 1026239). This variant has not been reported in the literature in individuals affected with LZTFL1-related conditions. This variant is present in population databases (no rsID available, gnomAD no frequency). This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 271 of the LZTFL1 protein (p.Tyr271Cys). |
Fulgent Genetics, |
RCV002476536 | SCV002778096 | uncertain significance | Bardet-Biedl syndrome 17 | 2022-01-18 | criteria provided, single submitter | clinical testing |