Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Neuberg Centre For Genomic Medicine, |
RCV004547275 | SCV005042698 | uncertain significance | Hand-foot-genital syndrome | criteria provided, single submitter | clinical testing | The missense c.884A>Cp.Gln295Pro variant in HOXA13 gene has not been reported previously as a pathogenic variant nor a benign variant, to our knowledge. The p.Gln295Pro variant has been reported with allele frequency of 0.006% in gnomAD Exomes and is novel not in any individuals in 1000 Genomes. This variant has not been reported to the ClinVar database. The amino acid change p.Gln295Pro in HOXA13 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. The amino acid Gln at position 295 is changed to a Pro changing protein sequence and it might alter its composition and physico-chemical properties. For these reasons, this variant has been classified as a Variant of Uncertain Significance VUS. |