Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000312319 | SCV000331015 | benign | not specified | 2015-09-25 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000586709 | SCV000695692 | likely benign | not provided | 2017-02-01 | criteria provided, single submitter | clinical testing | Variant summary: The GALT c.414G>T (p.Thr138Thr) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. Mutation taster predicts a damaging outcome for this variant, while 1/5 splice prediction tools predict the variant to create a splice donor site. Additionally, ESE finder predicts the creation of SRp40 binding site. However, these predictions are yet to be confirmed by functional studies. This variant was found in 66/121340 control chromosomes, predominantly observed in the African subpopulation at a frequency of 0.006255 (65/10392). This frequency is about 2 times the estimated maximal expected allele frequency of a pathogenic GALT variant (0.0028868), suggesting this is likely a benign polymorphism found primarily in the populations of African origin. In addition, one clinical diagnostic laboratory classified this variant as benign. Taken together, this variant is classified as likely benign. |
Invitae | RCV001085244 | SCV001015389 | benign | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003939931 | SCV004753171 | likely benign | GALT-related condition | 2020-06-02 | 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). |
Natera, |
RCV001828173 | SCV002085203 | likely benign | Galactosemia | 2018-05-22 | no assertion criteria provided | clinical testing |