Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Uitto Lab, |
RCV000782399 | SCV000920920 | likely pathogenic | Congenital ichthyosis of skin | 2018-06-08 | criteria provided, single submitter | clinical testing | |
Neuberg Supratech Reference Laboratories Pvt Ltd, |
RCV003338790 | SCV004047342 | uncertain significance | Ichthyosis, congenital, autosomal recessive 13 | criteria provided, single submitter | clinical testing | The c.112G>A (p.Gly38Arg) missense variant in SDR9C7 gene has been submitted to ClinVar as a Likely Pathogenic variant, but no details are available for independent assessment. It has not been reported in affected individuals. This variant is reported with the allele frequency (0.005%) in the gnomad and novel in 1000 genome database. The amino acid Gly at position 38 is changed to a Arg changing protein sequence and it might alter its composition and physicochemical properties. The amino acid change p.Gly38Arg in SDR9C7 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). |