Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Genomics, |
RCV001027769 | SCV001190373 | uncertain significance | Weill-Marchesani 4 syndrome, recessive | 2021-03-30 | criteria provided, single submitter | clinical testing | ADAMTS17 NM_139057.3 exon 14 p.Asp650His (c.1948G>C): This variant has not been reported in the literature but is present in 0.002% (5/24924) of African alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/15-100649262-C-G). Evolutionary conservation and computational predictive tools suggest that this variant may impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain. |
Labcorp Genetics |
RCV002552426 | SCV003034161 | uncertain significance | not provided | 2022-07-01 | 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Not Available"). ClinVar contains an entry for this variant (Variation ID: 827968). This variant has not been reported in the literature in individuals affected with ADAMTS17-related conditions. This variant is present in population databases (rs145922030, gnomAD 0.02%). This sequence change replaces aspartic acid, which is acidic and polar, with histidine, which is basic and polar, at codon 650 of the ADAMTS17 protein (p.Asp650His). |
Ambry Genetics | RCV003160186 | SCV003896081 | uncertain significance | Inborn genetic diseases | 2023-02-10 | criteria provided, single submitter | clinical testing | The c.1948G>C (p.D650H) alteration is located in exon 14 (coding exon 14) of the ADAMTS17 gene. This alteration results from a G to C substitution at nucleotide position 1948, causing the aspartic acid (D) at amino acid position 650 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |