Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000364760 | SCV000389945 | uncertain significance | Weill-Marchesani 4 syndrome, recessive | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001850663 | SCV002130551 | uncertain significance | not provided | 2022-08-23 | criteria provided, single submitter | clinical testing | This sequence change affects codon 629 of the ADAMTS17 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the ADAMTS17 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs145594305, 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 ADAMTS17-related conditions. ClinVar contains an entry for this variant (Variation ID: 315280). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. 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. |
Prevention |
RCV003950073 | SCV004776212 | likely benign | ADAMTS17-related disorder | 2022-12-22 | no assertion criteria provided | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |