ClinVar Miner

Submissions for variant NM_000163.5(GHR):c.239G>T (p.Gly80Val)

gnomAD frequency: 0.00111  dbSNP: rs114025919
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000522157 SCV000617424 uncertain significance not provided 2017-08-03 criteria provided, single submitter clinical testing The G80V variant in the GHR gene has been reported previously using alternate nomenclature G62V in an individual with idiopathic short stature and no second GHR variant identified; however, it is unknown whether this individual was screened for variants in other genes associated with short stature (El Kholy et al., 2011). The G80V variant is observed in 41/10406 (0.39%) alleles from individuals of African background, in the ExAC dataset (Lek et al., 2016). The G80V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is not conserved. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret G80V as a variant of uncertain significance.
Invitae RCV000522157 SCV001012450 likely benign not provided 2024-01-27 criteria provided, single submitter clinical testing
Revvity Omics, Revvity Omics RCV000522157 SCV003816798 uncertain significance not provided 2023-07-06 criteria provided, single submitter clinical testing

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