Submissions for variant NM_025243.4(SLC19A3):c.613A>G (p.Arg205Gly)

gnomAD frequency: 0.00041  dbSNP: rs199558186

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000556127	SCV000428297	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.
GeneDx	RCV000443556	SCV000514636	likely benign	not specified	2015-06-24	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae	RCV000556127	SCV000639725	likely benign	Biotin-responsive basal ganglia disease	2024-01-24	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002523120	SCV003589394	uncertain significance	Inborn genetic diseases	2022-12-07	criteria provided, single submitter	clinical testing	The c.613A>G (p.R205G) alteration is located in exon 3 (coding exon 2) of the SLC19A3 gene. This alteration results from a A to G substitution at nucleotide position 613, causing the arginine (R) at amino acid position 205 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen	RCV003311766	SCV004011309	likely benign	not provided	2023-04-01	criteria provided, single submitter	clinical testing	SLC19A3: BP4
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille	RCV001251644	SCV001427384	likely benign	Intellectual disability	2019-01-01	no assertion criteria provided	clinical testing