Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000780204 | SCV000917270 | benign | not specified | 2018-06-15 | criteria provided, single submitter | clinical testing | Variant summary: CTSA c.108_110dupGCT (p.Leu37dup) results in an in-frame insertion of a leucine into a repetitive region of the encoded protein sequence; this region consists of several consecutive leucines and doesn't have a known function. The variant allele was found at a frequency of 0.0055 in 230752 control chromosomes in the gnomAD database, including 5 homozygotes. The observed variant frequency is approximately 3.46 fold of the estimated maximal expected allele frequency for a pathogenic variant in CTSA causing Galactosialidosis phenotype (0.0016), strongly suggesting that the variant is benign. To our knowledge, no occurrence of c.108_110dupGCT in individuals affected with Galactosialidosis and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as benign. |
Invitae | RCV000954191 | SCV001100806 | benign | Combined deficiency of sialidase AND beta galactosidase | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003334008 | SCV004042131 | likely benign | not provided | 2024-01-01 | criteria provided, single submitter | clinical testing | CTSA: BS2 |
Prevention |
RCV003928268 | SCV004756551 | benign | CTSA-related condition | 2019-04-15 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |