Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Baylor Genetics | RCV000985155 | SCV001524657 | likely pathogenic | Combined deficiency of sialidase AND beta galactosidase | 2019-11-15 | criteria provided, single submitter | clinical testing | This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV000985155 | SCV002051243 | likely pathogenic | Combined deficiency of sialidase AND beta galactosidase | 2023-04-10 | criteria provided, single submitter | clinical testing | Variant summary: CTSA c.601-2A>G is located in a canonical splice-site and is predicted to affect mRNA splicing resulting in a significantly altered protein due to either exon skipping, shortening, or inclusion of intronic material. Several computational tools predict a significant impact on normal splicing: Four predict the variant abolishes a 3 prime acceptor site. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 2e-05 in 251438 control chromosomes. c.601-2A>G has been reported in the literature in at least one homozygous individual who may have Galactosialidosis (Alfares_2017, Trujillano_2017). These data indicate that the variant may be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Three clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as pathogenic/likely pathogenic. Based on the evidence outlined above, the variant was classified as likely pathogenic. |
| Gene |
RCV002466597 | SCV002761970 | pathogenic | not provided | 2022-12-09 | criteria provided, single submitter | clinical testing | Canonical splice site variant predicted to result in a null allele in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 28454995) |
| Biochemical Molecular Genetic Laboratory, |
RCV000985155 | SCV001133149 | likely pathogenic | Combined deficiency of sialidase AND beta galactosidase | 2019-09-26 | no assertion criteria provided | clinical testing |