ClinVar Miner

Submissions for variant NM_000163.5(GHR):c.311A>G (p.Tyr104Cys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003338919 SCV004047303 uncertain significance Laron-type isolated somatotropin defect criteria provided, single submitter clinical testing The missense variant c.311A>G (p.Tyr104Cys) in GHR gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Tyr104Cys variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. The amino acid Tyr at position 104 is changed to a Cys changing protein sequence and it might alter its composition and physico-chemical properties. The amino acid change p.Tyr104Cys in GHR is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance.

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