Submissions for variant NM_033022.4(RPS24):c.177A>G (p.Gly59=)

gnomAD frequency: 0.00614  dbSNP: rs6496

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV001093981	SCV000365263	benign	Diamond-Blackfan anemia 3	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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000400995	SCV000561417	benign	Diamond-Blackfan anemia	2025-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001705447	SCV000724900	likely benign	not provided	2021-03-29	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001705447	SCV002585232	benign	not provided	2025-04-01	criteria provided, single submitter	clinical testing	RPS24: BP4, BP7, BS1, BS2
Fulgent Genetics, Fulgent Genetics	RCV001093981	SCV002797499	benign	Diamond-Blackfan anemia 3	2021-10-18	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001705447	SCV005221758	likely benign	not provided		criteria provided, single submitter	not provided
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001093981	SCV005879348	benign	Diamond-Blackfan anemia 3	2024-08-12	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003897685	SCV004725522	likely benign	RPS24-related disorder	2020-03-17	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).