Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Eurofins Ntd Llc |
RCV000590154 | SCV000330960 | uncertain significance | not provided | 2015-09-29 | criteria provided, single submitter | clinical testing | |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV000590154 | SCV000695708 | uncertain significance | not provided | 2016-12-07 | criteria provided, single submitter | clinical testing | Variant summary: The GALT c.902A>G (p.His301Arg) variant located in the galactose-1-phosphate uridyl transferase, C-terminal domain (via InterPro) causes a missense change involving a conserved nucleotide, which 4/4 in silico tools (SNPs&GO not captured due to low reliability index) predict a damaging outcome, although these predictions have yet to be functionally assessed. The variant is located in the C-terminal HIT-like domain, and specifically the iron-binding site (Glu182, His281, His299, His301) has been suggested to stabilize the structure of the protein (PMID: 10529216). However, this missense change has not been evaluated for functional impact by in vivo/vitro studies. This variant was not observed in controls (ExAC, 1000 Gs, or ESP). A publication cites the variant with limited information (ie lack of phenotypic, co-occurrence and cosegregation data) but classifies the variant as a "variant of uncertain significance," which is from the same clinical diagnostic laboratory that cites the variant. Therefore, until additional information becomes available (ie, clinical and functional studies), the variant of interest has been classified as a "Variant of Uncertain Significance (VUS)." |