Submissions for variant NM_001126121.2(SLC25A19):c.797T>G (p.Met266Arg)

gnomAD frequency: 0.00204  dbSNP: rs148372053

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000388085	SCV000331399	likely benign	not specified	2016-01-29	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000340152	SCV000406422	likely benign	Amish lethal microcephaly	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.
Genetic Services Laboratory, University of Chicago	RCV000388085	SCV000597082	uncertain significance	not specified	2016-10-13	criteria provided, single submitter	clinical testing
GeneDx	RCV000838506	SCV000980376	likely benign	not provided	2020-10-16	criteria provided, single submitter	clinical testing
Invitae	RCV000838506	SCV001037515	likely benign	not provided	2023-12-18	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000838506	SCV001715465	uncertain significance	not provided	2020-02-25	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003930038	SCV004737803	likely benign	SLC25A19-related condition	2019-10-01	criteria provided, single submitter	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).