Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001875597 | SCV002153779 | uncertain significance | not provided | 2022-04-26 | criteria provided, single submitter | clinical testing | This sequence change falls in intron 3 of the COL18A1 gene. It does not directly change the encoded amino acid sequence of the COL18A1 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs755778352, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with COL18A1-related conditions. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Experimental studies and prediction algorithms are not available or were not evaluated, and the effect of this variant on mRNA splicing is currently unknown. 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 |
RCV004552079 | SCV004755948 | likely benign | COL18A1-related disorder | 2019-05-28 | criteria provided, single submitter | 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). |