Submissions for variant NM_025243.4(SLC19A3):c.801A>G (p.Gln267=)

gnomAD frequency: 0.00067  dbSNP: rs147205930

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000724904	SCV000332307	uncertain significance	not provided	2017-11-15	criteria provided, single submitter	clinical testing
Invitae	RCV001084366	SCV000639729	likely benign	Biotin-responsive basal ganglia disease	2024-01-29	criteria provided, single submitter	clinical testing
GeneDx	RCV000724904	SCV000729997	likely benign	not provided	2021-04-07	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001084366	SCV001297243	uncertain significance	Biotin-responsive basal ganglia disease	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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
CeGaT Center for Human Genetics Tuebingen	RCV000724904	SCV004151558	likely benign	not provided	2023-01-01	criteria provided, single submitter	clinical testing	SLC19A3: BP4, BP7
PreventionGenetics, part of Exact Sciences	RCV003930046	SCV004744180	likely benign	SLC19A3-related condition	2019-09-17	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).