ClinVar Miner

Submissions for variant NM_000515.5(GH1):c.116C>T (p.Ala39Val)

gnomAD frequency: 0.00985  dbSNP: rs151263636
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000300522 SCV000337460 benign not specified 2015-11-17 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000363532 SCV000404745 likely benign Decreased response to growth hormone stimulation test 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Invitae RCV000870866 SCV001012423 benign not provided 2024-01-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502119 SCV002810242 likely benign Ateleiotic dwarfism; Autosomal dominant isolated somatotropin deficiency; Short stature due to growth hormone qualitative anomaly; Isolated growth hormone deficiency type IB 2021-08-24 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003977771 SCV004791194 benign GH1-related condition 2019-10-31 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.