Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
GBinsight Genetic Testing by GB Health |
RCV001175127 | SCV001329677 | uncertain significance | Sex Hormone-Binding Globulin Deficiency | 2020-05-27 | no assertion criteria provided | clinical testing | Proband referred for clinical genetic testing presented with undetectable sex hormone binding globulin plasma protein by immunoblot. Clinical genetic testing identified homozygosity for the p.Asp376Asn (NM_001040.5:c.1126G>A) genetic variant in the the germline. Tested family members were all heterozygous and did not show any clinical deficiency. In silico algorithms predict this variant to be deleterious and partially conserved. In gnomAD, allele frequency of this variant is 0.000386 without a single case of a homozygote. There is no in vivo evidence that this variant is functional or clinically significant and is therefore classified as a variant of uncertain significance. |