Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Quest Diagnostics Nichols Institute San Juan Capistrano | RCV003477248 | SCV004219787 | uncertain significance | not provided | 2023-09-07 | criteria provided, single submitter | clinical testing | To the best of our knowledge, this variant has not been reported in the published literature. It also has not been reported in large, multi-ethnic general populations (Genome Aggregation Database, http://gnomad.broadinstitute.org). Analysis of this variant using bioinformatics tools for the prediction of the effect of amino acid changes on protein structure and function yielded predictions that this variant is benign. Based on the available information, we are unable to determine the clinical significance of this variant. |
| Ambry Genetics | RCV004621803 | SCV005119893 | uncertain significance | not specified | 2024-05-19 | criteria provided, single submitter | clinical testing | The p.L191V variant (also known as c.571C>G), located in coding exon 3 of the GALNT12 gene, results from a C to G substitution at nucleotide position 571. The leucine at codon 191 is replaced by valine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear. |