Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001281353 | SCV004281630 | likely pathogenic | Fucosidosis | 2023-12-05 | criteria provided, single submitter | clinical testing | This variant results in the deletion of part of exon 3 (c.662_662+8del) of the FUCA1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in FUCA1 are known to be pathogenic (PMID: 10094192). This variant is present in population databases (rs766794815, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with FUCA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 988780). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. |
Laboratory of Genomics, |
RCV001281353 | SCV001450462 | likely pathogenic | Fucosidosis | 2020-12-11 | no assertion criteria provided | research | 9-base-pair deletion (NG_013346.1:g.10233-10241delACAGGTAAG) covering the junction between exon 3 (4 bases) and intron 3 (5 bases) within FUCA1 sequence was associated with fucosidosis. This homozygous deletion was identified in the 5-year-old girl with clinical suspicion of fucosidosis and was associated with 2.6-fold decrease in alpha-L-fucosidase activity in her whole blood samples (17.89 nmol/mg protein/hour [N: 46 +/- 4]). Parents of the child are heterozygous for mentioned deletion. |