Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV003004447 | SCV003712524 | uncertain significance | Inborn genetic diseases | 2021-10-06 | criteria provided, single submitter | clinical testing | The c.3005G>A (p.R1002H) alteration is located in exon 15 (coding exon 15) of the SPTB gene. This alteration results from a G to A substitution at nucleotide position 3005, causing the arginine (R) at amino acid position 1002 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Neuberg Centre For Genomic Medicine, |
RCV003340656 | SCV004048107 | uncertain significance | Hereditary spherocytosis type 2 | criteria provided, single submitter | clinical testing | The missense variant c.3005G>A (p.Arg1002His) in SPTB gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Arg1002His variant is reported with the allele frequency (0.002%) in the gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. The amino acid Arg at position 1002 is changed to a His changing protein sequence and it might alter its composition and physico-chemical properties. The variant is predicted to be damaging by SIFT and the residue is conserved across species. The amino acid change p.Arg1002His in SPTB is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Variant of Uncertain Significance (VUS). |