Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000725562 | SCV000337811 | uncertain significance | not provided | 2015-11-16 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000397513 | SCV000727873 | likely benign | not specified | 2018-02-15 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000397513 | SCV000917411 | uncertain significance | not specified | 2018-03-26 | criteria provided, single submitter | clinical testing | Variant summary: GALT c.564+7G>A alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. 4/5 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant was observed with an allele frequency of 8.1e-06 in 246242 control chromosomes (gnomAD). This frequency is not higher than expected for a pathogenic variant in GALT causing Galactosemia (8.1e-06 vs 0.0029), allowing no conclusion about variant significance. To our knowledge, no occurrence of c.564+7G>A in individuals affected with Galactosemia and no experimental evidence demonstrating its impact on protein function have been reported. A ClinVar submission from a clinical diagnostic laboratory (evaluation after 2014) classifies the variant as "uncertain significance." Based on the evidence outlined above, the variant was classified as uncertain significance. |
Invitae | RCV001503388 | SCV001708243 | likely benign | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 2023-12-13 | criteria provided, single submitter | clinical testing |