Submissions for variant NM_025243.4(SLC19A3):c.621A>G (p.Ile207Met)

gnomAD frequency: 0.00150  dbSNP: rs145804755

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000415854	SCV000336192	uncertain significance	not provided	2016-11-01	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000530460	SCV000428296	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	RCV000415854	SCV000493453	uncertain significance	not provided	2016-06-01	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000530460	SCV000639726	likely benign	Biotin-responsive basal ganglia disease	2024-01-31	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000530460	SCV000743151	benign	Biotin-responsive basal ganglia disease	2014-10-09	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000530460	SCV000744177	likely benign	Biotin-responsive basal ganglia disease	2017-12-11	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000415854	SCV000843913	uncertain significance	not provided	2018-04-10	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003955195	SCV004779058	likely benign	SLC19A3-related disorder	2021-04-09	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).
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000530460	SCV000734173	likely benign	Biotin-responsive basal ganglia disease		no assertion criteria provided	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000415854	SCV000802337	uncertain significance	not provided	2016-02-29	no assertion criteria provided	clinical testing