Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001924571 | SCV002156785 | uncertain significance | Familial hemophagocytic lymphohistiocytosis 3 | 2022-08-19 | criteria provided, single submitter | clinical testing | This sequence change replaces phenylalanine with serine at codon 662 of the UNC13D protein (p.Phe662Ser). The phenylalanine residue is weakly conserved and there is a large physicochemical difference between phenylalanine and serine. This variant is not present in population databases (gnomAD no frequency). 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: 1383334). 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: "Possibly Damaging"; 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. |
| Ambry Genetics | RCV004681292 | SCV005180701 | uncertain significance | Inborn genetic diseases | 2024-05-08 | criteria provided, single submitter | clinical testing | The c.1985T>C (p.F662S) alteration is located in exon 21 (coding exon 21) of the UNC13D gene. This alteration results from a T to C substitution at nucleotide position 1985, causing the phenylalanine (F) at amino acid position 662 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |