ClinVar Miner

Submissions for variant NM_001040.5(SHBG):c.1126G>A (p.Asp376Asn)

gnomAD frequency: 0.00015  dbSNP: rs138612626
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GBinsight Genetic Testing by GB HealthWatch, Genben Lifesciences Corporation 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.

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