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

gnomAD frequency: 0.00111  dbSNP: rs114025919

Total submissions: 3

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	RCV000522157	SCV003816798	uncertain significance	not provided	2023-07-06	criteria provided, single submitter	clinical testing