Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001221975 | SCV001394052 | uncertain significance | Familial hemophagocytic lymphohistiocytosis 3 | 2022-06-13 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 713 of the UNC13D protein (p.Gly713Ser). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with UNC13D-related conditions. ClinVar contains an entry for this variant (Variation ID: 950291). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
Genome Diagnostics Laboratory, |
RCV002264231 | SCV002543148 | uncertain significance | Autoinflammatory syndrome | 2021-02-18 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV001221975 | SCV002784797 | uncertain significance | Familial hemophagocytic lymphohistiocytosis 3 | 2022-03-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002562543 | SCV003528081 | uncertain significance | Inborn genetic diseases | 2021-09-16 | criteria provided, single submitter | clinical testing | The c.2137G>A (p.G713S) alteration is located in exon 23 (coding exon 23) of the UNC13D gene. This alteration results from a G to A substitution at nucleotide position 2137, causing the glycine (G) at amino acid position 713 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |