Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Illumina Laboratory Services, |
RCV000778634 | SCV000914958 | uncertain significance | Metaphyseal anadysplasia 2 | 2018-10-16 | criteria provided, single submitter | clinical testing | This variant is a stop-gained variant, which was observed by ICSL 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 for this variant, it 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. No publications were found based on this search. Due to the potential impact of stop-gained variants and the lack of clarifying evidence, this variant is classified as a variant of unknown significance but suspicious for pathogenicity for this disease. |
| Labcorp Genetics |
RCV001869136 | SCV002316523 | uncertain significance | not provided | 2023-06-24 | 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 631876). This variant has not been reported in the literature in individuals affected with MMP9-related conditions. This variant is present in population databases (rs200746714, gnomAD 0.03%). This sequence change creates a premature translational stop signal (p.Trp588*) in the MMP9 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 MMP9 cause disease. |
| OMIM | RCV000778634 | SCV002520387 | pathogenic | Metaphyseal anadysplasia 2 | 2022-04-28 | no assertion criteria provided | literature only |