Submissions for variant NM_000163.5(GHR):c.686G>A (p.Arg229His)

gnomAD frequency: 0.00073  dbSNP: rs6177

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000724936	SCV000332542	uncertain significance	not provided	2016-11-29	criteria provided, single submitter	clinical testing
GeneDx	RCV000292438	SCV000728496	likely benign	not specified	2017-12-15	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Mayo Clinic Laboratories, Mayo Clinic	RCV000660599	SCV000782714	uncertain significance	Short stature due to partial GHR deficiency	2017-09-13	criteria provided, single submitter	clinical testing
Invitae	RCV000724936	SCV001094649	benign	not provided	2024-01-24	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001156023	SCV001317496	uncertain significance	Laron-type isolated somatotropin defect	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.