Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Integrated Genetics/Laboratory Corporation of America | RCV000589766 | SCV000695688 | uncertain significance | not provided | 2016-06-08 | criteria provided, single submitter | clinical testing | Variant summary: The GALT c.328+7T>C variant involves the alteration of a non-conserved intronic nucleotide. One in silico tool (MutationTaster) predicts a benign outcome for this variant. In addition, 5/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant was found in 1/121408 control chromosomes at a frequency of 0.0000082, which does not exceed the estimated maximal expected allele frequency of a pathogenic GALT variant (0.0028868). The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories, nor evaluated for functional impact by in vivo/vitro studies. Because of the absence of clinical information and the lack of functional studies, the variant is classified as a variant of uncertain significance (VUS) until additional information becomes available. |
| Invitae | RCV001082085 | SCV001020338 | likely benign | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 2019-12-31 | criteria provided, single submitter | clinical testing |