Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000504217 | SCV000596364 | uncertain significance | not specified | 2016-08-16 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000765506 | SCV000896811 | uncertain significance | Microcephalic osteodysplastic primordial dwarfism type II | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001755747 | SCV001987651 | uncertain significance | not provided | 2019-05-08 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Prevention |
RCV003962395 | SCV004780612 | uncertain significance | PCNT-related condition | 2024-01-10 | criteria provided, single submitter | clinical testing | The PCNT c.3443T>C variant is predicted to result in the amino acid substitution p.Val1148Ala. To our knowledge, this variant has not been reported in the literature. The amino acid residue p.Val1148 of the PCNT protein has been weakly conserved during evolution. This variant is reported in 0.023% of alleles in individuals of Latino descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |