Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Illumina Laboratory Services, |
RCV000400172 | SCV000389963 | uncertain significance | Weill-Marchesani 4 syndrome, recessive | 2018-01-12 | criteria provided, single submitter | clinical testing | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease. |
| Labcorp Genetics |
RCV000882346 | SCV001025579 | likely benign | not provided | 2024-01-02 | criteria provided, single submitter | clinical testing | |
| Center for Genomics, |
RCV000400172 | SCV001190429 | uncertain significance | Weill-Marchesani 4 syndrome, recessive | 2021-03-30 | criteria provided, single submitter | clinical testing | ADAMTS17 NM_139057.3 exon 9 p.Ser430Pro (c.1288T>C): This variant has not been reported in the literature but is present in 0.1% (135/129176) of European alleles, including 1 homozygote in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/15-100695419-A-G). This variant is present in ClinVar (Variation ID:315298). Evolutionary conservation for this variant is unclear; computational predictive tools suggest that this variant may not impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain. |
| Ambry Genetics | RCV003278762 | SCV003971906 | uncertain significance | Inborn genetic diseases | 2023-05-31 | criteria provided, single submitter | clinical testing | The c.1288T>C (p.S430P) alteration is located in exon 9 (coding exon 9) of the ADAMTS17 gene. This alteration results from a T to C substitution at nucleotide position 1288, causing the serine (S) at amino acid position 430 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |