Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001934329 | SCV002213140 | uncertain significance | not provided | 2021-09-20 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with HOXA13-related conditions. 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. 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: "Tolerated"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C0"). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This sequence change replaces proline with serine at codon 59 of the HOXA13 protein (p.Pro59Ser). The proline residue is weakly conserved and there is a moderate physicochemical difference between proline and serine. |
| Fulgent Genetics, |
RCV002479518 | SCV002791017 | uncertain significance | Guttmacher syndrome; Hand-foot-genital syndrome | 2022-02-17 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV002562162 | SCV003708089 | uncertain significance | Inborn genetic diseases | 2022-11-17 | criteria provided, single submitter | clinical testing | The c.175C>T (p.P59S) alteration is located in exon 1 (coding exon 1) of the HOXA13 gene. This alteration results from a C to T substitution at nucleotide position 175, causing the proline (P) at amino acid position 59 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |