Submissions for variant NM_017875.4(SLC25A38):c.196A>G (p.Arg66Gly)

gnomAD frequency: 0.00344  dbSNP: rs34127778

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001703762	SCV000523262	benign	not provided	2020-02-07	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001150973	SCV001312069	likely benign	Sideroblastic anemia 2	2018-01-13	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001703762	SCV003261376	benign	not provided	2025-01-15	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001703762	SCV005910386	likely benign	not provided	2025-03-01	criteria provided, single submitter	clinical testing	SLC25A38: BP4, BS1
PreventionGenetics, part of Exact Sciences	RCV004539826	SCV004767187	likely benign	SLC25A38-related disorder	2024-02-28	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).